Ch 1
Pierre Robin sequence
CP, mandibular micrognathia, and glossoptosis (airway
obstruction caused by lower, posterior displacement of the
tongue).
may be associated with
Stickler syndrome
and velocardiofacial syndrome
The retruded mandible results in the following: • Posterior
displacement of the tongue • Lack of support of the tongue
musculature • Airway obstruction Respiratory difficulty,
especially
van der Woude syndrome
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caused by mutations in the gene that
encodes interferon regulatory factor 6
(IRF6)
most common form of syndromic clefting
Hypodontia
Paramedian lip pits
AD
popliteal pterygium syndrome
1.
2.
3.
4.
5.
Paramedian lip pits
Popliteal webbing (pterygia)
CL and/or CP
genital abnormalities
congenital bands connecting the upper and lower jaws (syngnathia)
Kabuki syndrome (Niikawa-Kuroki syndrome)
Paramedian lip pits
eversion of the lower lateral eyelids, (reminiscent of the makeup used by actors in Kabuki, the
traditional form of Japanese theater).
intellectual disability
large ears
CL and/or CP
hypodontia
joint laxity
various skeletal abnormalities
Ascher syndrome
Ascher syndrome is characterized by a triad of features:
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Double lip
Blepharochalasis
Nontoxic thyroid enlargement
Macroglossia
Congenital and Hereditary
• Vascular malformations
•Lymphangioma
• Hemangioma
• Hemihyperplasia
• Cretinism
• Beckwith-Wiedemann syndrome
• Down syndrome
• Duchenne muscular dystrophy
• Mucopolysaccharidoses
• Neurofibromatosis type I
• Multiple endocrine neoplasia, type 2B
Acquired • Edentulous patients • Amyloidosis • Myxedema • Acromegaly • Angioedema • Myasthenia gravis • Amyotrophic
lateral sclerosis • Carcinoma and other tumors
oromandibular-limb hypogenesis syndromes
These syndromes feature associated limb anomalies,such as hypodactylia (i.e., absence of digits) and hypomelia (i.e., hypoplasia of
part or all of a limb). Other patients have had coexisting anomalies, such as cleft palate, intraoral bands, and situs inversus.
Microglossia frequently is associated with hypoplasia of the mandible, and the lower incisors may be missing
Beckwith- Wiedemann syndrome
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Omphalocele (i.e., protrusion of part of the intestine
through a defect in the abdominal wall at the umbilicus
Macroglossia
Visceromegaly
Gigantism
Neonatal hypoglycemia
increased risk for several childhood visceral
tumors (Wilms tumor, adrenal carcinoma,
hepatoblastoma, rhabdomyosarcoma, and neuroblastoma)
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Facial features: nevus flammeus of the forehead and
eyelids,linear indentations of the earlobes, and
maxillary hypoplasia
Chromosome 11
Melkersson-Rosenthal syndrome
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nontender, persistent swelling that may involve one
or both lips (Orofacial Granulomatosis)
facial paralysis
fissured tongue
Autosomal dominant ,The gene (treacle or TCOF1)
chromosome 5q32-q33.1)
mandibulofacial dysostosis
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Autosomal dominant (The gene (treacle or TCOF1) has been mapped to chromosome
5q32-q33.1).
characteristic facies (zygomas are hypoplastic, resulting in a narrow face with
depressed cheeks and downward-slanting palpebral fissures)
Coloboma (notch, occurs on the outer portion of the lower eyelid,no eyelashes medial
to the coloboma)
Sideburns show a tongue-shaped extension toward the cheek.
Ears anomalies.
mandible is underdeveloped (retruded chin)
Hypoplasia of the condylar and coronoid processes with prominent antegonial notching.
The mouth is downturned ( 15% of patients have lateral facial clefting)
Cleft palate is seen in about one third of cases.
parotid glands may be hypoplastic or may be totally absent
hypoplasia of the nasopharynx, oropharynx, and hypopharynx ( infants may experience
respiratory and feeding difficulties)
narrow trachea + mandibular hypoplasia ⇒ improper tongue position (these defects
can lead to the infant’s death from respiratory complications)
hemifacial microsomia (HFM)
Hemifacial Microsomia is a condition in which the lower half of one side of the face
is underdeveloped.
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Condylar hypoplasia
SG aplasia
lateral facial cleft
oculo-auriculo-vertebral syndrome (Goldenhar syndrome)
Goldenhar syndrome can be thought of as a particularly severe form of HFM (internal organs especially the heart, kidneys, and lungs
may be underdeveloped)
abnormal development of the eye, ear and spine
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Spinal abnormalities (scoliosis, kyphosis )
craniofacial abnormalities including:
○
Condylar hypoplasia
○
Hemifacial microsomia,( where tissues on one or both sides of the face are
underdeveloped particularly in the area affecting the ear, mouth and jaw areas)
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Cleft lip or cleft palate
○
wider mouth; one side may be higher than the other
Eye: Benign cysts or growths on the eyes (ocular dermoid cysts)
Ear:
○
Partially formed or totally absent ear (microtia) ,
○
Hearing loss, usually in one ear( partial or full deafness )
Eagle syndrome
(stylohyoid syndrome styloid syndrome, styloid-stylohyoid syndrome,
or styloid–carotid artery syndrome)
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Elongation of the styloid process or mineralization of the stylohyoid
ligament ⇒ impingement or compression of adjacent nerves or blood
vessels.
vague facial pain (while swallowing, turning the head, or opening the
mouth)
dysphagia, dysphonia, otalgia, headache, dizziness, syncope, and
transient ischemic attacks.
Classic Eagle syndrome occurs after a tonsillectomy.
Carotid artery syndrome (stylohyoid syndrome),condition unrelated
to tonsillectomy
Traumatic Eagle syndrome after fracture of a mineralized
stylohyoid ligament.
HEMIHYPERPLASIA
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asymmetric overgrowth of one or more body parts.
Entire side = complex hemihyperplasia
Single limb = simple
2:1 F
More often right side
Skin thickened with hyperpigmentation
hypertrichosis, telangiectasias, or nevus flammeus.
20% intellectually disabled
increased prevalence of abdominal tumors, Wilms
tumor, adrenal cortical carcinoma, and
hepatoblastoma.
Unilateral macroglossia
periodic ultrasound examination should be performed
to rule out development of abdominal tumors
Malformation Syndromes Associated with Hemihyperplasia
• Beckwith-Wiedemann syndrome
• Neurofibromatosis
• Klippel-Trénaunay-Weber syndrome
• Proteus syndrome
• McCune-Albright syndrome
• Epidermal nevus syndrome
• Triploid/diploid mixoploidy
• Langer-Giedion syndrome
• Multiple exostoses syndrome
• Maffucci syndrome
• Ollier syndrome
• Segmental odontomaxillary dysplasia
Klippel-Trénaunay-Weber syndrome
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Port-wine stain.
Vein malformations. (varicose veins)
usually on the surface of the legs.
Overgrowth of bones and soft tissue.
usually limited to one leg
fusion of fingers or toes, or having extra
fingers or toes occurs.
Lymphatic system abnormalities.
Hemihyperplasia
Proteus syndrome
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asymmetric overgrowths
raised, rough skin lesions that may have a bumpy, grooved
appearance
a curved spine, also called scoliosis
fatty overgrowths, often on the stomach, arms, and legs
noncancerous tumors, often found on the ovaries, and membranes
that cover the brain and spinal cord
malformed blood vessels, which increase the risk of life-threatening
blood clots
mental disability
long face and narrow head, droopy eyelids, and wide nostrils
thickened skin pads on the soles of the feet
McCune-Albright syndrome
polyostotic fibrous dysplasia
café au lait pigmentation
● Hockey stick deformity
● Hypophosphatemia due to FGF23
multiple endocrinopathie, the most common endocrine
abnormality is sexual precocity, particularly in females.Other
possible endocrinopathies include hyperthy- roidism,
hyperparathyroidism, hypercortisolism, and excess growth
hormone
Mazabraud syndrome
● Fibrous dysplasia
● Intramuscular myxomas
Epidermal nevus syndrome
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Hemihyperplasia
Extensive epidermal nevi
Abnormalities of:
● CNS
● Skin
● CV system
● GU system
● Eyes
Triploid/diploid mixoploidy
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Hemihyperplasia
Diploidy (two sets of homologous chromosomes)
Triploidy (three haploid sets of chromosomes)
MR
Growth retardation
Facial & body asymmetry
Malformed ears
Syndactyly
Langer-Giedion syndrome
autosomal dominant genetic disorder
characterized by multiple bony exostosis, short stature, mental retardation, and typical facial features.
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Hemihyperplasia
Learning difficulties
Short
Small head
Big ears & nose
Missing teeth
Multiple exostoses syndrome
autosomal dominant
linked with mutations in three genes: EXT1 EXT2 EXT3
Maffucci syndrome
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non-hereditary , mutation
in IDH1
sporadic chondromatosis
with soft tissue angiomas
increased risk for
chondrosarcom
Ollier syndrome
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dyschondroplasia
enchondromatosis
multiple cartilaginous enchondroses
multiple enchondromatosis
Mutations in IDH1, IDH2 and PTHR1 genes
Segmental odontomaxillary dysplasia
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painless, unilateral enlargement of the maxillary bone
fibrous hyperplasia of the overlying gingival soft tissues
Mild facial asymmetry
One or both developing maxillary premolars frequently are
missing
teeth in the affected area may be hypoplastic or show enamel
defects
thickened trabeculae that often are vertically oriented
hypertrichosis or rough erythema of the overlying facial skin
Becker nevus (hypertrichosis and hyperpigmentation) of the
ipsilateral face and neck.
PROGRESSIVE FACIAL HEMIATROPHY; ROMBERG SYNDROME;
PARRY-ROMBERG SYNDROME
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Unknown cause
characterized by atrophic changes affecting one side of the face
Progressive hemifacial atrophy exhibits many features similar to a localized form of scleroderma
overlying skin often exhibits dark pigmentation.
Some patients have a sharp line of demarcation, resembling a large linear scar, between normal and abnormal skin
near the midline of the forehead, known as linear scleroderma “en coup de sabre” (i.e., “strike of the sword”)
enophthalmos because of loss of periorbital fat.
Local alopecia
trigeminal neuralgia,
Unilateral atrophy of the tongue
delayed eruption of the teeth
adenomatous polyposis coli (APC) tumor
suppressor gene on chromosome 5q21
Gardner's syndrome
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intestinal polyps as well as various abnormalities of bone,teeth, skin, soft tissue,
and other sites.
variant of familial adenomatous polyposis (Gardner syndrome generally refers to
cases in which the extraintestinal manifestations are especially prominent)
Desmoid tumors
(12% to 18%).
Colorectal polyps
Multiple osteomas
odontomas, supernumerary teeth,
impacted teeth.
pigmented lesions of the ocular
fundus
epidermoid cysts of
(Gardner less than < cleidocranial
dysplasia)
the skin
(also known as congenital
hypertrophy of the retinal pigment
epithelium) CHRPE
Crouzon syndrome
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One of variety mutation in fibroblast
growth factor receptor 2 (FGFR2) gene
on chromosome 10q26
craniosynostosis(premature closing of the cranial sutures) ⇒ cranial malformation
○
brachycephaly (short head)
○
Scaphocephaly (boat-shaped head)
○
trigonocephaly (triangle-shaped head)
○
cloverleaf ” skull (kleeblattschädel deformity)- ocular proptosis
Visual impairment or total blindness and a hearing Deficit
Skull radiographs typically show increased digital markings (i.e., “beaten-metal” pattern).
maxilla is underdeveloped⇒ midface hypoplasia,teeth crowded
Hypodontia or hyperdontia
lateral palatal swellings may ⇒ midline maxillary pseudocleft
No intellectual disability
cloverleaf ” skull (kleeblattschädel
deformity)- ocular proptosis
Apert syndrome
genetic disorder that causes abnormal development of the skull.
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skull bones to fuse together prematurely (craniosynostosis).
Midface hypoplasia.
syndactyly.
Poor intellectual development.
obstructive sleep apnea
Repeated ear or sinus infections
Hearing loss
Crowded teeth due to underdevelopment of the jaw
two Point mutation in fibroblast
growth factor receptor 2 (FGFR2) gene
on chromosome 10q26
Acrobrachycephaly (tower skull)
Or kleeblattshadel
Flattened occiput = tall forehead
Ocular proptosis & hypertelorism
Downward-slanting lateral palpebral fissures
Mouth breathers
Middle ear infections
Syndactyly of 2-4 digits of hands & feet
ALWAYS
MR!
Acne of forearms
Cleft palate
Ch 2
Congenital erythropoietic porphyria (Günther disease)
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autosomal recessive
disorder of porphyrin metabolism that results in the increased synthesis and excretion of porphyrins
severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of
the hands
Syndromes Associated with Hypodontia
• Ankyloglossia superior • Böök • Cockayne • Coffin-Lowry • Cranio-oculo-dental •
Crouzon • Down • Ectodermal dysplasia • Ectodermal dysplasia, cleft lip (CL), cleft
palate (CP) • Ehlers-Danlos • Ellis-van Creveld • Focal dermal hypoplasia •
Freire-Maia • Frontometaphyseal dysplasia • Goldenhar • Gorlin •
Gorlin-Chaudhry-Moss • Hallermann-Streiff • Hanhart • Hurler •
Hypoglossia-hypodactylia • Incontinentia pigmenti • Johanson-Blizzard •
Lacrimo-auriculo-dento-digital (LADD) • Lipoid proteinosis • Marshall-White •
Melanoleukoderma • Monilethrix-anodontia • Oral-facial-digital type I • Otodental
dysplasia • Palmoplantar keratosis, hypotrichosis, cysts of eyelid • Progeria •
Rieger • Robinson • Rothmund-Thomson • Sturge-Weber • Tooth-and-nail • Turner
• Wilkie
Hypohidrotic Ectodermal Dysplasia
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Decreased eccrine swear glands
Sparce hair
Wrinking of periocular skin with hyperpigmentation
Midface hypoplasia
Brittle nails
Reduced number of teeth
Abnormal teeth
Gorlin Syndrome
Marshall-White
skin condition that consists of Bier spots associated with insomnia and tachycardia.
Lacrimo-auriculo-dento-digital (LADD)
Mutations in the FGFR2, FGFR3, or FGF10
AD
underdeveloped or absent salivary glands
Cup-shaped ears, often accompanied by hearing loss
small, underdeveloped teeth with thin enamel and peg-shaped front
teeth (incisors)
Hand deformities, abnormally small or missing thumbs, Alternatively,
the thumb might be duplicated, fused with the index finger
(syndactyly), abnormally placed, or have three bones instead of the
normal two and resemble a finger. Abnormalities of the fingers
include syndactyly of the second and third fingers, extra or missing
fingers, and curved pinky fingers (fifth finger clinodactyly)
impair kidney function.
Johanson-Blizzard
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caused by mutations to the UBR1 gene
autosomal recessive trait.
multiple congenital anomaly characterized by exocrine pancreatic
insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia,
sensorineural hearing loss, growth retardation, anal and urogenital
malformations, and variable intellectual disability.
Tricho-dento-osseous
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autosomal dominant
kinky curly hair
(enamel hypoplasia), (hypomineralization). ( yellowish-brown)
Both the primary and secondary molars may be abnormally shaped
(i.e., “prism” shaped),
(taurodontism).
Some affected individuals also exhibit widely spaced teeth;
decreased tooth width (microdontia); premature (precocious) or
delayed tooth eruption; and secondary teeth that become impacted
in the gums. Affected individuals may lose their teeth early, typically
in the second or third decade of life.
unusual thickness and/or denseness (sclerosis) of the top portion of
the skull,long bones, jaw and spine
thin, brittle nails
Hypoglossia-hypodactylia; Hanhart
autosomal recessive
A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes)
and limb, craniofacial and other, less frequent malformations.
Craniofacial anomalies include microstomia (small mouth), micrognathia, hypoglossia, variable clefting or aberrant
attachments of tongue, mandibular hypodontia, cleft palate
Hallermann-Streiff
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malformations of the skull and facial (craniofacial) region
sparse hair (hypotrichosis)
eye abnormalities;
dental defects
degenerative skin changes (atrophy)
; and proportionate short stature.
(brachycephaly) (hypoplastic mandible); a narrow, highly arched roof of
the mouth (palate); and a thin, pinched, tapering nose.
clouding of the lenses of the eyes at birth (congenital cataracts or
corneal stromal opacities) unusually small eyes (microphthalmia).
Dental defects may include natal or neonatal teeth, delayed tooth
eruption, enamel hypoplasia, absent permanent teeth (hypodontia or
partial adontia),
Gorlin-Chaudhry-Moss
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stocky body build
normal intelligence
coronal craniosynostosis
facial dysmorphism
conductive hearing loss
coloboma of the eyelid
Microdontia, Oligodontia
Narrow high arched narrow palate with medial cleft
generalized hypertrichosis
Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent
flexion crease of the thumbs, single transverse palmar creases)
umbilical hernia.
Freire-Maia; Odontotrichomelic hypohidrotic dysplasia
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autosomal recessive ectodermal dysplasia affecting
hair, teeth, and nails and all four extremities.
malformations of all the extremities including absence
of several bones in the hands and feet
abnormal teeth
sparse hair (hypotrichosis).
very small or undeveloped (hypoplastic) nails
abnormalities of the ear
excessive sweating (hyperhidrosis)
an unusual facial appearance
Frontometaphyseal dysplasia
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FMD is caused by mutations in the FLNA gene. Inheritance is X-linked
males tend to be more severely affected
Skeletal dysplasia (enlargement of the bones in the frontal part of the skull, skull base
sclerosis, as well as in the medial part (diaphysis) of the long bones and the part between the
diaphysis and the end parts of the bones, small tips of the bones of the fingers)
Progressive contractures of the hand and other bones of the body over the first 20 years
resulting in limited movement of the hand, fingers, wrists, elbows, knees, and ankles
Scoliosis
Limb bowing
Deformed fingers
Facial dysmorphism (big frontal, wide-spaced eyes, down-slanting eye slits, broad nose bridge
and tip, small or less teeth than normal and occasionally craniosynostosis (when the sutures of
the skull closed too early))
Hearing loss
Intelligence is normal.
Böök
Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome
reported in a Swedish family (25 cases from 4 generations), and one isolated
case, and is characterized by premolar aplasia, hyperhidrosis, and premature
graying of the hair.
Hypodontia
Cockayne
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short stature
premature aging (progeria)
severe photosensitivity,
moderate to severe learning delay.
failure to thrive in the newborn,
very small head ( microcephaly ),
impaired nervous system development.
hypodontia
Coffin-Lowry
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intellectual disability
abnormalities of the head and facial
(craniofacial) area
large, soft hands with short, thin (tapered)
fingers
short stature
hypodontia
Syndromes Associated with Hyperdontia
• Apert • Cleidocranial dysplasia • Craniometaphyseal dysplasia • Crouzon •
Curtius • Down • Ehlers-Danlos • Ellis-van Creveld • Fabry-Anderson • Fucosidosis
• Gardner • Hallermann-Streiff • Incontinentia pigmenti • Klippel-Trénaunay-Weber
• Laband • Leopard • Nance-Horan • Oral-facial-digital types I and III •
Sturge-Weber • Tricho-rhino-phalangeal
Cleidocranial Dysplasia
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Clavicle defects
Skull defects
Long neck
Narrow, drooping shoulders
Short
Pronounced frontal bossing
Hypertelorism
Broad based nose
Depressed nasal bridge
High arched palate
Delayed eruption of permanent teeth
Supernumerary teeth
otodental syndrome
Otodental syndrome is a very rare inherited condition characterized by grossly
enlarged canine and molar teeth (globodontia) associated with sensorineural
hearing loss.
Rubinstein-Taybi syndrome
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Talon cusps
caused by a mutation in
the CREBBP or EP300
gene,
broad thumbs and toes
short stature
distinctive facial features
varying degrees of
intellectual disability
autosomal dominant
Mohr syndrome; Orofaciodigital syndrome 2
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Facial findings including nodules (bumps)
of the tongue
split in the lip and/or palate (cleft lip and/or
palate)
thickened frenulum (cord of tissue),
unusually wide nasal bridge
widely spaced eyes (dystopia canthorum)
narrow, short fingers and toes
(clinobrachydactyly)
Syndactyly, polydactyly)
conductive hearing loss
intellectual disabilities
Talon cusp
Ellis-van Creveld syndrome
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autosomal recessive
mutations in the EVC or EVC2 genes
short stature; short arms and legs
narrow chest with short ribs.
Polydactyly
missing and/or malformed nails
dental abnormalities (talon cusp)
congenital heart defects
Berardinelli-Seip syndrome
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AR
Total loss of body fat (adipose tissue)
extreme muscularity
high blood glucose levels after oral glucose
administration
elevated levels of triglycerides (fat) in the blood
(hypertriglyceridemia), and diabetes.
Talon cusps
Syndromes with Talon cusps
Rubinstein-Taybi syndrome,
Mohr syndrome,
Ellis-van Creveld syndrome,
incontinentia pigmenti achromians,
Berardinelli-Seip syndrome,
Sturge-Weber angiomatosis
Syndromes Associated with Taurodontism
• Amelogenesis imperfecta, hypoplastic type IE • Amelogenesis
imperfecta-taurodontism type IV • Cranioectodermal dysplasia • Down •
Ectodermal dysplasia • Ellis-van Creveld •
Hyperphosphatasia-oligophrenia-taurodontism • Hypophosphatasia • Klinefelter •
Lowe • Microcephalic dwarfism-taurodontism • Microdontia-taurodontia-dens
invaginatus • Oculo-dento-digital dysplasia • Oral-facial-digital type II •
Rapp-Hodgkin • Scanty hair-oligodontia-taurodontia • Sex chromosomal
aberrations (e.g., XXX, XYY) • Tricho-dento-osseous types I, II, and III •
Tricho-onycho-dental • Wolf-Hirschhorn
Factors Associated with Hypercementosis
Local Factors• Abnormal occlusal trauma• Adjacent inflammation (e.g., pulpal,
periapical, periodontal)• Unopposed teeth (e.g., impacted, embedded, without
antagonist)• Repair of vital root fracture
Systemic Factors• Acromegaly and pituitary gigantism• Arthritis• Calcinosis• Paget
disease of bone• Rheumatic fever• Thyroid goiter• Gardner syndrome• Vitamin A
deficiency (possibly)
Paget’s disease
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SQSTM1
Bone pain
Bowing deformity
Most commonly involved:
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Lumbar vertebrae
Pelvis
Skull
Femur
Leontiasis ossea
(lionlike facial deformity)
Goldblatt syndrome
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A rare primary bone dysplasia
generalized joint laxity
dentinogenesis imperfecta.
short stature
narrow chest
Scoliosis
brachydactyly.
Ch 3
Ch 4
Syndromes Associated withGingival Fibromatosis
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• Byars-Jurkiewicz syndrome
• Costello syndrome
• Cross syndrome
• Infantile systemic hyalinosis•
Jones-Hartsfield syndrome•
Murray-Puretic-Drescher
syndrome• Ramon syndrome•
Rutherford syndrome•
Zimmerman-Laband syndromeg
Prune-Belly
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Gingival fibromatosis
Hypoplastic abdominal
muscle
Crytochidism (absence of
testes)
Obstructive nephropathy
Zimmerman-Laband syndrome
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gingival fibromatosis
coarse facial appearance
absence or hypoplasia of
nails or terminal
phalanges of hands and
feet.
Ear, nose (pinna) large
poorly formed
joint hypomobility
hepatosplenomegaly
Rutherford syndrome
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AD
characterized by the classical triad of
gingival fibromatosis
non-eruption of tooth
corneal dystrophy
Abnormally shaped teeth have also
been reported.
Ramon syndrome
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Cherubism
Epilepsy
gingival fibromatosis
intellectual disability.
Murray-Puretic-Drescher syndrome or Juvenile hyaline fibromatosis
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hyaline fibromatosis syndrome
papulo-nodular skin lesions (especially around
the head and neck)
soft tissue masses
gingival hypertrophy
joint contractures
osteolytic bone lesions.
Jones-Hartsfield syndrome
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AD
gingival fibromatosis
deafness.
Cross syndrome
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AR
gingival fibromatosis
Microphthalmia
Athetosis (writhing fingers)
mental retardation
Hypopigmentation
Infantile systemic hyalinosis
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joint contractures
skin abnormalities
severe chronic pain
widespread deposition of hyaline material in
many tissues such as the skin, skeletal
muscle, cardiac muscle, gastrointestinal tract,
lymph nodes, spleen, thyroid, and adrenal
glands.
Gingival fibromatosis
Byars-Jurkiewicz syndrome
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Hypertrichosis
gingival hypertrophy
giant fibroadenomas of breast
kyphosis
Systemic Disorders with Premature Attachment Loss
●
1. Acatalasia2. Acrodynia3. Acquired immunodeficiency syndrome (AIDS)4.
Blood dyscrasias• Leukemia• Agranulocytosis• Cyclic neutropenia5.
Chédiak-Higashi syndrome6. Cohen syndrome7. Crohn disease8. Diabetes
mellitus9. Dyskeratosis congenita10. Ehlers-Danlos syndrome, types IV and
VIII11. Glycogen storage disease12. Haim-Munk syndrome13.
Hemochromatosis14. Hypophosphatasia15. Kindler syndrome16. Langerhans
cell disease17. Leukocyte dysfunctions with associated extraoral infections18.
Oxalosis19. Papillon-Lefèvre syndrome20. Sarcoidosis21. Trisomy 21
Kindler Syndrome
Premature loss of teeth
Oxalosis
●
●
Premature loss of teeth
kidneys unable to eliminate calcium oxalate crystals.
Cheidak-Higashi
●
●
●
●
●
●
●
AR
usually occurs in childhood
reduced pigment in the skin and eyes
increased susceptibility to infections
tendency to bruise and bleed easily
Neurological deficits
Premature Attachment Loss
PAPILLON-LEFÈVRE SYNDROME
●
●
●
●
●
●
●
Diffuse palmar-plantar keratosis
Nail dystrophy
Hyperhidrosis
Keratosis of knees and elbows
Dramatic periodontitis
Haim-Munk is the same except skin manifestions are worse;
perio is better
Same manifestations but without oral findings:
●
●
Keratoderma palmoplantar of Unna-Thost syndrome
Meleda disease
Haim-Munk syndrome
●
●
●
●
●
●
●
AR
palmoplantar hyperkeratosis
pyogenic skin infections
Hypertrophy of the fingernails
and toenails
Periodontosis results in the
premature loss of teeth.
abnormally long slender fingers
and toes
loss of bone tissue at the ends
of the fingers and/or toes
(acroosteolysis)
Unna-Thost syndrome
●
●
diffuse palmoplantar keratoderma
the palms and soles gradually become thicker and develop a yellowish, waxy
appearance.
Howell-Evans syndrome
●
●
thickening of the skin in the palms of the hands and the soles of the feet
(hyperkeratosis).
high lifetime risk of esophageal cancer.
Vohwinkel syndrome
●
thick, honeycomb-like calluses on the palms of the hands and soles of the
feet (palmoplantar keratoses)
Gamborg Nielsen syndrome
palmoplantar keratoderma
mal de Meleda
palmoplantar keratoderma
Ch 5
Guillain-Barré syndrome
●
●
●
neurological disorder
body's immune system mistakenly attacks part of its peripheral nervous
system
can range from a very mild case with brief weakness to nearly devastating
paralysis
Congenital Syphilis
three pathognomonic diagnostic features, known as Hutchinson triad:
• Hutchinson teeth
• Ocular interstitial keratitis • Eighth nerve deafness
autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy [APECED] syndrome
●
●
●
●
●
●
Mucocutaneous candidiasis
Hypothyroidism
Hypoparathyroidism
Hypoadrenocorticism (Addison’s)
DM
10% oral and esophageal carcinoma
Endocrine-Candidiasis Syndrome
●
●
●
●
●
Mucocutaneous candidiasis
Hypothyroidism
Hypoparathyroidism
Hypoadrenocorticism (Addison’s)
DM
Ch 6
Ch 7
Ramsay Hunt syndrome
●
●
●
●
●
VZV
cutaneous lesions of the external auditory
canal and involvement of the ipsilateral
facial and auditory nerves.
Facial paralysis
hearing deficits, vertigo, and other auditory
and vestibular symptoms.
some may develop loss of taste in the
anterior two-thirds of the tongue
congenital rubella syndrome (CRS).
●
classic triad of CRS consists of deafness, heart disease, and cataracts.
Deafness is the most common manifestation,
familial dysautonomia (Riley-Day syndrome)
disorder that affects the nervous system.
trouble feeling pain, temperature, skin pressure and the position of their arms and
legs.
Lesch-Nyhan syndrome,
●
●
●
●
●
●
●
neurological and behavioral abnormalities
overproduction of uric acid in the body
almost exclusively in males
inflammatory arthritis (gout)
kidney stones
bladder stones
moderate cognitive disability.
Ch 8
pink disease;Swift-Feer disease
infantile acrodynia
exposure to mercury (Hg) commonly found in teething powders
argyria
●
●
●
●
skin condition, silver builds up in body over a
long time.
skin, eyes, internal organs, nails, and gums a
blue-gray color
especially areas of exposed to sunlight.
change in skin color is permanent
Ch 9
Systemic Disorders Associated with Recurrent
Aphthous
Stomatitis
● Behçet syndrome• Celiac disease• Cyclic neutropenia• Nutritional deficiencies
(iron, folate, zinc, B1 , B2 , B6 , and B12 )• Immunoglobulin A (IgA) deficiency•
Immunocompromised conditions, including human immunodeficiency virus
(HIV) disease• Inflammatory bowel disease• MAGIC syndrome (mouth and
genital ulcers with inflamed cartilage)• PFAPA syndrome (periodic fever,
aphthous stomatitis, pharyngitis, cervical adenitis)• Reactive arthritis• Sweet
syndrome• Ulcus vulvae acutum
BEHÇET SYNDROME (BEHÇET DISEASE; ADAMANTIADES
SYNDROME
HLA-B51
Löfgren syndrome
● Erythema nodosum (sarcoidosis on the legs)
● Bilateral hilar lymphadenopathy
● Arthralgia
● Associated with acute sarcoidosis
Heerfordt syndrome
●
●
●
●
●
Parotid enlargement
Anterior uveitis of the eye
Facial paralysis
Fever
Associated with
acute sarcoidosis
Ch 10
extensive coalescing papillary lesions (papillomatosis) of the oral
mucosa may be seen in several syndrome
●
including nevus unius lateris, acanthosis nigricans, focal dermal hypoplasia
(Goltz-Gorlin) syndrome, and Down syndrome
Focal dermal hypoplasia (Goltz-Gorlin)
●
●
X-linked; lethal in M
FOCAL:
●
●
●
●
●
●
●
Female sex
Osteopathia striata
Coloboma
Absent ectodermis-, mesodermis-, and
neurodermis-derived elements
Lobster claw deformity
Can have extensive papillomatosis
Hypodontia
Nevus Unius Lateris
●
●
●
Congenital nevus limited to one side of the body
May exhibit extensive, coalescing papillary lesions
Follow Blaschko’s lines on the skin
Leser-Trélat sign.
●
●
sudden appearance of numerous seborrheic keratoses with pruritus may be
associated with internal malignancy. This rare phenomenon is called the
Leser-Trélat sign.
often occurs with malignant acanthosis nigricans
Muir-Torre syndrome
●
●
●
●
●
AD
visceral malignancies
sebaceous adenomas and carcinomas
Keratoacanthomas
MSH2 and MSH6 GENE MUTATION
LEOPARD
●
Lentigines (multiple), electrocardiographic abnormalities, ocular
hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of
growth, and deafness (sensorineural)
Associations with Melanin Pigmentation of Oral Mucosa
●
Physiologic or Syndromic Associations• Racial or physiologic pigmentation•
Peutz-Jeghers syndrome• McCune-Albright syndrome• LEOPARD syndrome
(lentiginosis profusa, no intraoral melanosis)• Laugier-Hunziker syndrome•
Cronkhite-Canada syndrome• Bloom syndrome• Dunnigan syndrome• Dyskeratosis
congenita• Endocrine candidiasis syndrome• Incontinentia pigmenti•
Oculo-cerebro-cutaneous syndrome• Rothmund-Thomson syndrome• Trisomy 14
mosaicism• Unusual facies, vitiligo, spastic paraplegia syndrome• Xeroderma
pigmentosum• Addison disease• Neurofibromatosis type I• Carney complexChronic
Trauma or Irritation or Environmental Pollutant• Chronic mucosal trauma or irritation
(chronic cheek bite)• Chronic autoimmune disease (erosive lichen planus, pemphigoid)•
Smoker’s melanosis• Yusho (chronic exposure to high levels of polychlorinated
biphenyls [PCBs])Systemic Medications• Chloroquine and other quinine derivatives•
Phenolphthalein• Estrogen• AIDS-related medications
Bloom syndrome
●
●
●
●
●
●
●
Short
Rash in childhood
due to sun
Micrognathism
Big ears & nose
Pigmentation of skin
Premature aging
Propensity to develop
Malignancies @ young age
neurocutaneous melanosis
●
characterized by congenital nevi in conjunction with
melanotic neoplasms of the central nervous system
(CNS), including leptomeningeal melanosis and
melanoma.
● Multiple large congenital nevi
● Melanotic neoplasms of the CNS
○ Meningeal melanosis
○ Melanoma
●
risk factors for actinic keratosis
●
albinism, Rothmund-Thompson syndrome, Cockayne syndrome, xeroderma
pigmentosum [see page 696], and Bloom syndrome).
multiple keratoacanthomas
Ferguson-Smith
2. Witten-Zak
3. Grzybowski
1.
Fanconi anemia
●
●
●
●
Jewish people
Defect in DNA repair
●
AML
●
Bone marrow failure
Short
Various organ/congenital
developmental/
endocrine problems
Wiskott-Aldrich syndrome
●
●
●
●
Eczema
Thrombocytopenia
Immune deficiency
Bloody diarrhea
Osteopetrosis aka Albers-Schonberg Disease
●
●
Infantile:
●
Increased bone density
●
Anemia
●
Infection
●
Facial deformity
●
Compression of cranial nerves
Adult:
●
Increased bone density
●
Axial skeleton affected
●
No effect on long bones
●
Two forms:
i.
1. Cranial nerve compression & RARE fractures
ii.
2. NO cranial nerve compression; frequent fractures
several genodermatoses are associated with basal cell carcinoma,
●
●
●
●
●
●
●
nevoid basal cell carcinoma syndrome
xeroderma pigmentosum
Albinism
Rasmussen syndrome
Rombo syndrome
Bazex-Christol-Dupré syndrome
Dowling-Meara subtype of epidermolysis bullosa simplex
Ch 11
Brooke-Spiegler Syndrome
●
membranous basal cell adenoma, deserves separate mention. This form of
the tumor appears to be hereditary, often occurring in combination with skin
appendage tumors, such as dermal cylindromas and trichoepitheliomas.
Ch 12
neurofibromatosis type II (NF2)
●
●
●
●
●
●
●
AD
mutation of a tumor suppressor gene (NF2) on chromosome 22,
which codes for a protein known as merlin
Bilateral schwannomas (“acoustic neuromas”)
Cranial and spinal meningiomas
Other cranial nerve and spinal schwannomas Cutaneous
schwannomas
Subcapsular cataracts
Café au lait pigmentation (less common than in NF1) Cutaneous
neurofibromas (uncommon)
schwannomatosis
●
●
●
AD
mutation of the SMARCB1 gene on chromosome 22.
Patients develop multiple painful schwannomas
Neurofibromatosis type I (NF1) von Recklinghausen’s
●
●
●
●
●
●
Café au lait (california)
NF
Axillary/inguinal freckling
Optic glioma
Lisch nodules (iris hamartoma)
Osseous lesions:
●
●
●
Oral:
●
●
●
●
●
Sphenoid dysplasia
Thinning of long bone cortex + pseudoarthritis
Enlargement of fungiform papillae
Mandibular foramen/canal elargement
Concavity of medial surface of ramus
Increase in diminsion of coronoid notch
Can be associated with:
●
●
Noonan syndrome
CGCG
Multiple endocrine neoplasia type 1 (MEN 1)
●
●
●
●
●
●
AD
MEN1 gene mutation
Parathyroid tumors
Pancreatic islet tumors
Anterior pituitary tumors
Adrenocortical tumors
Medullary thyroid carcinoma (MTC) syndrome
●
●
●
●
AD
RET proto-oncogene
MTC
Low or no risk for other neuroendocrine tumors
Multiple endocrine neoplasia type 2A (MEN 2A)
●
●
●
●
●
AD
RET
MTC
Pheochromocytoma
Parathyroid adenoma
Multiple endocrine neoplasia type 2B (MEN 2B)
●
●
●
●
●
●
AD
RET
MTC
Pheochromocytoma
Mucosal neuromas
Marfanoid habitus
Noonan syndrome
●
●
●
●
●
●
●
●
Congenital heart defect
Hypertrophic cardiomyopathy
Short
Abnormal ears & facies
Webbed neck
Flat nose
Impaired blood clotting
Gene mutation PTPN11 & SOS1
neck paragangliomas also has been described rarely in several other
genetic conditions
●
neurofibromatosis type 1, multiple endocrine neoplasia type 2, and von
Hippel-Lindau syndrome.
von Hippel-Lindau syndrome
●
●
●
●
●
●
●
●
●
AD
mutation in the VHL gene.
Brain/Spinal Hemangioblastoma
Retinal Hemangioblastoma
Endolymphatic Sac Tumor Hearing loss, tinnitus, vertigo
Pancreatic Cysts/Tumor/Cancer
Pheochromocytoma
Paraganglioma
Kidney Cysts, Renal Cell Carcinoma
PHACE(S) syndrome
●
Posterior fossa brain anomalies (usually Dandy-Walker malformation)•
Hemangioma (usually cervical segmental hemangioma)• Arterial anomalies•
Cardiac defects and Coarctation of the aorta• Eye anomalies• Sternal cleft or
Supraumbilical raphe
Kasabach-Merritt phenomenon
●
serious coagulopathy that has been associated with two rare vascular tumors
known as tufted hemangioma and kaposiform hemangioendothelioma. This
disorder is characterized by severe thrombocytopenia and hemorrhage
because of platelet trapping within the tumor. The mortality rate is as high as
20% to 30%.
Sturge-Weber syndrome
● Nonhereditary
● Port wine stain (CN V, esp V1)
Tram-like calcification on skull radiograph
● Leptomeningeal angiomas over the cerebral
cortex causing:
●
MR
●
Contralateral hemiplegia
●
Seizures
Ch 13
SchwachmanDiamond syndrome
●
●
Exocrine pancreatic insufficiency
Bone marrow dysfunction
●
●
●
Neutropenia
Skeletal abnormalities
Short
cartilage-hair syndrome
●
●
●
Short limbed dwarfism due to skeletal dysplasia
Hypertrichosis
Neutropenia
Kostmann syndrome
●
●
●
●
●
Severe congenital neutropenia disorder
lack of mature neutrophils
frequent, recurrent bacterial infections
Periodontal disease
cognitive impairment
Hand-Schüller-Christian
●
●
characterized by the clinical triad of diabetes inspidus, exophthalmos, and
lytic bone lesions.
Letterer-Siwe disease
LCH
Sézary syndrome
●
●
●
●
●
●
●
Cutaneous T-cell lymphomas
A red, itchy rash that covers large portions of the body
Enlarged lymph nodes
Alopecia
Thickened skin on the palms of the hands and soles of the feet
Abnormalities of the fingernails and toenails
Hepatosplenomegaly (enlarged liver and spleen)
Ch 14
multifocal giant cell lesions of the jaws may occur association with certain
heritable conditions
●
cherubism (see page 587), Noonan-like/multiple giant cell lesion syndrome,
Ramon syndrome, Jaffe-Campanacci syndrome, and neurofibromatosis type
1
Jaffe-Lichtenstein Syndrome
●
●
●
●
2 or more bones with fibrous dysplasia
Café au lait pigmentation (coast of Maine)
Hockey stick deformity
Hypophosphatemia due to FGF23
FAMILIAL GIGANTIFORM CEMENTOMA
●
●
●
●
Rapid growth of jaws
XRAY looks like FCOD initially
Anemia in F
One family:
●
Anemia due to uterus adenomas
hyperparathyroidism-jaw tumor syndrome.
●
characterized by parathyroid adenoma or carcinoma, ossifying fibromas of the
jaws, renal cysts, and Wilms tumors. I
Li-Fraumeni syndrom
●
●
●
●
familial predisposition to a wide range of cancers.
mutation in a tumor suppressor gene TP53.
mostly soft-tissue and bone sarcomas, breast cancer, brain tumors,
adrenocortical carcinoma and acute leukemia.
gastrointestinal cancers and cancers of the lung, kidney, thyroid, and skin, as
well as in gonadal organs
Rothmund-Thompson syndrome
●
●
●
●
●
●
●
●
●
●
AR
mutation in the RECQL4 gene
affects skin, eyes, bones, and teeth.
characteristic facial rash (poikiloderma)
sparse hair, eyelashes, and eyebrows
short stature
skeletal and dental abnormalities
Cataracts
premature aging
increased risk for cancer, especially
osteosarcoma.
Rosai-Dorfman disease
●
●
●
●
●
exact cause is unknown.
Overproduction and accumulation of histiocytes in
the lymph nodes, most often cervical
may occur in other areas of the body; the skin,
central nervous system, kidney, and digestive
tract.
predominantly affects children, adolescents or
young adults.
skin is the most common extranodal site.
Chapter 16
Dermatological Disease
Hereditary Benign Intraepithelial Dyskeratosis
AKA Witkop-Von Sallmann Syndrome
● Thick white plaques on the buccal & labial mucosa
● Gelatinous plaques affecting the bulbar conjunctiva adjacent to the
cornea
White sponge nevus
●
●
●
●
●
●
Defect in normal keratinization of the oral mucosa
At birth or early childhood
Symmetrical, thickened, white, corrugated plaque affect the B.M bilaterally
> ventral tongue, labial mucosa, soft palate, alveolar mucosa and FOM
asymptomatic , early involve extra oral mucosa
Keratin 3,14
autosomal dominant trait KRT 6a, 6b,16,17
Pachyonachia Congenita
(JADASSOHN-LEWANDOWSKY TYPE; JACKSON-LAWLER TYPE)
characteristic nail changes, either at birth or in the early neonatal period.
1.
2.
3.
4.
5.
Marked hyperkeratosis of palmer planter (callous like lesion)
Elevated nail bud with pinched tubular configuration
Hyperhydrosis of palm and soles
Punctate papule affect the skin (accumulation of keratin in hair follicle)
Sever pain with walking (feet blisters)
oral lesions:
●
●
●
●
●
thickened white plaques that involve the lateral margins and dorsal surface of the
tongue.
regions exposed to mild trauma, such as the palate,BM, alveolar mucosa
1/3 of Pts. Has oral lesions
Neonatal teeth associated with (KRT17)
Horsness and dyspnea ( laryngeal mucosal lesions)
DKC1 gene
X-linked recessive trait
Dyskeratosis Congenita
(COLE- ENGMAN SYNDROME; ZINSSER-COLE- ENGMAN SYNDROME)
DKC1
gene
● Striking in males
● During the 1st 10 years of life
● Reticular pattern of skin hyperpigmentation (face, neck, upper chest)
● Orally: affects tongue + B.M, development of bullae —> erosion —> leukoplakia (premalignant)
● increased risk of developing several life-threatening conditions.
1. Aplastic anemia
2. Thrombocytopenia
3. Leukemia
4. SCC
Xeroderma Pigmentosum
autosomal recessive genetic disorder
●
●
●
●
●
●
●
Multiple cautenous malignancies develop before age of 20
Mutation of epithelial cells DNA repair (cellular hypersensitivity to ultraviolet (UV) radiation)
During the 1st decade of life; Areas exposed to the sun such as the face show reddening of the skin
with scaling and freckling → hypepigmented
> H&N
SCC → affectes > Tip of tongue and lower lip
Lesions transfer into —> actinic keratosis —> SCC, BCC
5% melanoma
Sporadic or autosomal dominant trait
Cutaneous and mucosal abnormalities
HEREDITARY MUCOEPITHELIAL DYSPLASIA
No increased risk for malignant transformation
Affects: nasal, conjunctival, vaginal, cervical, urethral, and bladder
clinical triad of
1- non-scarring alopecia affecting mainly the scalp
2- well-demarcated mucosal erythema (palate)/psoriasiform erythematous intertriginous
plaques.
3- Follicular keratosis
4- keratoconjuctivitis
5- cataracts , impaired vision, photophobia
6- angular cheilitis
7- fissured tongue, and recurrent infections
8- life threatening complication of recurrent pneumonia
Histopathology of mucosal lesions show characteristic findings of dyskeratotic
keratinocytes, vacuolated basal cells, lack of epithelial maturation and decreased number
of desmosomes.
NEMO , X-linked dominant trait
INCONTINENTIA PIGMENTI
(BLOCH- SULZBERGER SYNDROME)
●
●
●
Affecting the skin, eyes, and central nervous system (CNS), as well as oral structures.
37 : 1 female-to-male ratio
Lethal in males
1. Vesicular stage: Vesiculobullous lesions appear on the skin of the trunk and limbs.
Spontaneous resolution occurs within 4 months.
2. Verrucous stage: Verrucous cutaneous plaques develop, affecting the limbs. These clear by
6 months of age
3. Hyperpigmentation stage: Macular, brown skin lesions appear, characterized by a strange
swirling pattern , tend to fade around the time of puberty.
4. Atrophy and depigmentation stage
CNS abnormalities in 30% —> intellectual disability, seizure disorders, and motor difficulties.
Ocular problems in 35%
Oral manifestations in 70% to 95% —> oligodontia (hypodontia), delayed eruption,
hypoplasia of the teeth , small and cone shaped teeth
autosomal dominant trait
mutation of a gene (ATP2A2)
DARIER DISEASE
(KERATOSIS FOLLICULARIS; DYSKERATOSIS FOLLICULARIS; DARIER-WHITE DISEASE)
A lack of cohesion among the surface epithelial cells characterizes this disease,
develop during the first or second decade of life
numerous erythematous, often pruritic, papules on the skin of the trunk and the scalp
worse during the summer months
The palms and soles often exhibit pits and keratoses
The nails show longitudinal lines, ridges, or painful splits.
Oral involvement in 15% to 50%
●
●
multiple, normal colored or white, flat-topped papules that confluent
Affects palate and alveolar mucosa (cobble-stone mucosal appearance)
Ehlers-Danlos Syndromes
Ehlers-Danlos Syndrome classical
●
●
●
●
●
●
Type I or V collagen
Hyperelasticity of the skin
Hypermobility of joints
Easy bruising
Cutaneous fragility with papyraceous scarring
Pulp stones
Ehlers-Danlos syndrome
● Joint hypermobility Hypermobility
● No scarring
Ehlers-Danlos Syndrome
Vascular
● Severe bruising
● Arterial and uterine rupture
● Type III collagen
Ehlers-Danlos Syndrome Kyphoscoliosis
●
●
●
●
●
●
Ocular fragility
Hyperextensible skin
Hypermobile joints
Scolliosis
AR
Lysyl hydroxylase point mutation
Ehlers-Danlos Syndrome Arthrochalasis
●
●
●
●
●
Congenital hip dislocation
Joint hypermobility
Normal Scarring
Mandibular hypoplasia
Type I collagen
Ehlers-Danlos Syndrome Dermatosparaxis
●
●
●
●
Severe skin fragility
Sagging skin
AR
Procollagen piptidase deficiency
Ehlers-Danlos Syndrome Fibronectin type
●
●
●
Platelet defect
AR
Possible defect in fibronectin
Ehlers-Danlos Syndrome X-linked & Periodontal
X-linked (X-linked recessive)
●
Same as mild classic symptoms:
●
●
●
●
Hyperextensible skin
Hypermobile joints
Easy bruising
Papyraceous scarring
Periodontal
●
●
●
Marked perio dz at young age
Collagen type III
Same as mild classic symptoms:
●
●
●
●
Hyperextensible skin
Hypermobile joints
Easy bruising
Papyraceous scarring
TUBEROUS SCLEROSIS
(EPILOIA; BOURNEVILLE-PRINGLE SYNDROME)
Diagnosis of based on finding at least two of the following
major features:
●
●
●
●
●
●
●
●
Facial angiofibromas —> primarily in the nasolabial
fold area
Ungual or periungual fibromas —> around or under
the margins of the nails
Hypomelanotic macules (three or more)
Shagreen patch —> (connective tissue
hamartomas)
CNS hamartomas
Subependymal giant cell astrocytoma
Cardiac rhabdomyoma
Renal angiomyolipoma
Multiple retinal nodular hamartomasThe presence
of one major and two minor features may also
confirm the diagnosis. The minor features include
the following:
• Multiple, randomly distributed enamel pits
• Gingival fibromas
• Bone “cysts” (actually fibrous proliferations)
• Multiple renal cysts
• Hamartomatous rectal polyps
●
●
●
●
●
●
●
●
●
●
●
●
●
●
●
MR
Seizure disorders
Angiofibromas of skin
Periungual fibromas
Shagreen patches (CT hamartomas)
Ash-leaf spots (hypopigmentation)
CNS tubers
Cardiac rhabdomyoma (50%)
Angiomyolipoma on kidney
Enamel pitting on facial aspect of anterior permanent
teeth
Oral fibromas
Retinal nodular hamartomas
Fibrous proliferations in bone
Multiple renal cysts
Hamartomatous rectal polyps
EPIDERMOLYSIS BULLOSA
Also known as Multiple Hamartoma Syndrome
found on skin, mucous membranes (mouth, nasal membranes, GI tract), thyroid gland, and breast tissue
•Autosomal dominant
Palmoplantar keratosis
Acral keratosis
TrichilemMomas (facial)
Hamartomatous polyps
Multiple oral Papules
The prevalence of malignancy higher than general population by age of 40, Increased risk for :
Breast carcinoma
Endometrial carcinoma
Thyroid disease/carcinoma
Cutaneous hemangiomas, neuromas, xanthomas, and lipomas
Prophylactic Mastectomies by 3rd decade
Epidermolysis Bullosa - Simplex
●
●
●
Blistering of hands and feet
NO mucosal involvement
Blisters heal WITHOUT scarring
Epidermolysis Bullosa – Junctional, generalized
gravis
variant
● AR
●
●
●
●
●
●
Severe blistering at birth
Granulation tissue around the mouth
Oral erosions
Pitted enamel hypoplasia
Often fatal
Previously EB letalis
Epidermolysis Bullosa – Dominant Dystrophic, Pasini
type
● Generalized blistering
●
●
●
White papules
Scarring
Mild oral lesions
Epidermolysis Bullosa – Dominant Dystrophic,
Cockayne-Touraine
type
● Extremities primarily affected
●
●
Mild oral lesions
Scarring
Epidermolysis Bullosa – Recessive Dystrophic,
Generalized
Gravis Type
● Severe mucosal involvement
●
●
●
Mittenlike scarring
Deformities of hands and feet
Die in childhood
Epidermolysis Bullosa – Recessive Dystrophic,
Inverse
Type
● Involvement of groin & axilla
●
Severe oral & esophageal lesions
REACTIVE ARTHRITIS (REITER SYNDROME)
arthritis will be accompanied by mucocutaneous findings⇒REITER
SYNDROME
1. Nongonococcal urethritis
2. Arthritis
3. Conjunctivitis
Skin lesions (characteristic lesion of the glans penis (balanitis
circinata))
Oral lesion : less than 20% of Pts ( papules and superficial ulcer ,
Geographic tongue )
American Rheumatism Association has defined reactive arthritis
based on the clinical findings of a peripheral arthritis that lasts longer
than 1 month in conjunction with urethritis, cervicitis, or both.
immunologically mediated cause.
Lhermitte-Duclos disease
● Hamartoma of the cerebellum
● Pathognomonic
Bannayan-Riley-Ruvalcaba
● Subcutaneous lipomas
● Macrocephaly
● Hemangiomas.
Proteus-like syndrome
● Hemihyperplasia
● Overgrowth of:
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Skin
Bones
Muscles
Fat
Blood vessels
Lymphatic vessels
Bullous Pemphigoid
● Most common autoimmune blistering condition
● Pruitis fillowed by multiple, tense bullae
● Bullae rupture = superficial crust
● Heal without scarring
Chronic Cutaneous Lupus Erythematous
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Skin lesions present as discoid
lupus erythematous
Scaly red patches on
sun-exposed skin
Healing results in cutaneous
atrophy with scarring and hypo- or
hyperpigmentation
Mucosal lesions might show fine
stippling of white dots or white
striae
Subacute Cutaneous Lupus Erythematous
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Skin lesions most prominent
Sun-exposed areas
Do not indurate/scar
No renal or neurologic abnormalities;
however, arthritis or musculoskeletal
problems
Triggered by medications
Systemic Sclerosis
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Raynaud’s phenomenon
Resorption of terminal phalanges (acro-osteolysis) =
claw-like fingers
Diffuse, hard texture of skin
Taut, masklike face
Purse string mouth
PDL widening throughout
Mandibular bone resorption (20%)
Nasal alae atrophy
Fibrosis of:
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Lungs**
Heart
Kidneys
GI tract
CREST Syndrome AKA Acrosclerosis AKA Limited Scleroderma
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Calcinosis cutis
Raynaud’s phenomenon
Esophageal dysfunction (collagen deposit
in esophagus)
Sclerodactyly
Telangiectasia
Acanthosis Nigricans
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Velvety, brownish alteration of the skin and
can be associated with:
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DM
Addison’s disease
Hypothyroidism
Acromegaly
Crouzon syndrome
Drugs like BCP or corticosteroids
Conditions similar to non-insulin-dependent
diabetes mellitus
Can develop with GI cancer
Pseudoacanthosis nigricans = obese
Flexural surfaces, papillary, hyperkeratotic
Oral usually = malignant form; NOT brown
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Diffuse, fine papillary areas on the tongue
and upper lip
Ch 15
Mucopolysaccharidosis - Hurler
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AR; type I-H
Enzyme deficiency: alpha-L-Iduronidase
Stored substrate:
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Heparan sulfate
Dermatan sulfate
Appears in infancy
Cloudy corneas
Growth retardation
Reduced intelligence
Coronary artery disease
Rarely life 10 yrs
Mucopolysaccharidosis - Schele
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AR; type I-S
Enzyme deficiency: alpha-L-Iduronidase
Stored substrate:
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Heparan sulfate
Dermatan sulfate
Onset in late childhood
Cloudy corneas
NORMAL intelligence
Aortic regurgitation
Survive into adulthood
Mucopolysaccharidosis – Sanfilippo-A
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AR; Type III-A
Enzyme deficiency: Sulfamidase
Stored substrate:
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Heparan sulfate
Appears ages 4-6
CLEAR corneas
Reduced intelligence
Mild skeletal changes
Death in adolescence
Mucopolysaccharidosis – Sanfilippo-B
● AR; Type III-B
● Enzyme deficiency:
alpha-N-acetylglucosaminidase
● Stored substrate:
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Heparan sulfate
Appears ages 4-6
CLEAR corneas
Reduced intelligence
Mild skeletal changes
Death in adolescence
Mucopolysaccharidosis – Morquio-A
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AR; type IV-A
Enzyme deficiency: Galactosamine-6-sulfatase
Stored substrate:
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Keratin sulfate
Chondroitin sulfate
N-acetylgalactosamine-6-sulfate
Appears age 1-2
Cloudy corneas
NORMAL intelligence
Lax joints
May survive until middle age
Mucopolysaccharidosis – Morquio-B
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AR; type IV-B
Enzyme deficiency: beta-galactosidase
Stored substrate:
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Keratin sulfate
Appears age 1-2
Cloudy corneas
NORMAL intelligence
Lax joints
May survive until middle age
Mucopolysaccharidosis – Maroteaux Lamy
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AR; type VI
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Enzyme deficiency: N-acetylgalactosamine-4-sulfatase
Stored substrate:
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Dermatan sulfate
Chondroitin sulfate
N-acetylgalactosamine-4-sulfate
N-acetylgalactosamine-4
6-disulfate
Appears ages 2-6
Cloudy corneas
NORMAL intelligence
Growth retardation
Stiff joints
May survive into adulthood
DiGeorge syndrom
● CATCH-22:
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Cardiac Abnormality (especially tetralogy of
Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia & Hypoparathyroidism
Chromosome 22
Lipid Reticuloendothelioses – Gaucher disease
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Lack of glucocerebrosidase = glucosylceramide
accumulation within lysosomes of cells of
macrophage & monocytye lineage in bone
marrow = anemia & thrombocytopenia
Type 1 = nonneuronopathic (Jews)
Type 2 & 3 = neuronopathic
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Neurologic deterioration
Erlenmeyer flask deformities of long bones
Growth retardation
Visceral enlargement
Niemann-Pick disease Lipid Reticuloendothelioses
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Deficiency of acid sphingomyelinase (Type A & B)
Type C = MPC-1 gene mutation (cholesterol processing)
Accumulation of sphingomyelin within lysosomes of
macrophages
A & C = neuronopathic
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Psychomotor retardation
Dementia
Spasticity
Death by age 20
B = visceral signs such as hepatosplenomegaly;
adulthood
Tay-Sachs disease Lipid Reticuloendothelioses
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Lack of beta-hexosaminidase A
Accumulation of ganglioside
within lysosomes of neurons
Some may survive into adulthood
in mild forms
Severe infantile form:
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Rapidly progressive neuronal
degeneration
Blindness
MR
Intractable seizures
Death by age 3-5
Gilbert syndrome
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Low activity of enzyme that conjugates bilirubin - glucuronyltransferase
Innocuous condition
Causes jaundice
5-10 % of US
PLUMMER-VINSON SYNDROME AKA Paterson-Kelly Syndrome
AKA Sideropenic Dysphagia
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Iron deficiency anemia
Glossitis
Dysphagia
Koilonychia (spoon-shaped
nails)
High frequency of oral and
esophageal SCCA
Pseudohypoparathyroidism AKA Albright Hereditary Osteodystrophy AKA
Acrodysostosis
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Normal PTH amounts; non-functioning target cells
Type Ia and Ic:
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Mild MR
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Obesity
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Round face
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Short neck
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Short
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Meta- carpals & -tarsals are short
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Osteoma cutis
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Hypogonadism
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Hypothyroidism
Type Ib and II:
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Normal clinical appearance
Dental manifestations:
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Enamel hypoplasia
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Olgiodontia
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Delayed eruption
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Dagger shaped pulp calcifications
Beriberi
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Thiamin (Vit B1) deficiency
“Polished” rice eaters
CV problems
Neurologic problems
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Peripheral neuropathy
Werenicke’s encephalopathy
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Vomiting
Nystagmus
Progressive mental deterioration
Coma
Death
Riboflavin Deficiency
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Vitamin B2 deficiency
Normocytic, normochromic anemia
Seborrheic dermatitis
Oral alterations:
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Glossitis
Angular cheilitis
Sore throat
Swelling/erythema of the oral mucosa
Pellagra
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Niacin (vit B3) deficiency
Using naize as principle component of diet
Symmetric dermatitis – sun-exposed
areas; rough skin
Dementia
Diarrhea
Oral manifestations:
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Stomatitis
Glossitis
Red, raw tongue
Death if untreated
Pyridoxine Deficiency
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Vit B6 deficiency
Can be caused by isoniazid (anti-TB drug)
Weakness
Dizziness
Seizure disorder
Cheilitis
Glossitis
Scurvy – Vit C deficiency
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Inadequate collagen synthesis
Weakened vascular walls = hemorrhage
Delayed wound healing
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Oral manifestations: Scorbutic gingivitis
Gingival swelling + bleeding + ulceration
Tooth mobility + Perio dz
Untreated = death from intracranial hemorrhage
Rickets
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Vitamin D deficiency in infants
Irritability
Growth retardation
Prominence of the costochondral
junctions = (Rachitic Rosary)
Bowing of the long bones in childhood
Osteomalacia
● Vitamin D deficiency in adults
● Weak bones due to osteoid with insufficient calcium
● Diffuse skeletal pain
Vitamin E deficiency
● Occurs in children with chronic cholestatic liver disease
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Problems absorbing all fat soluble vitamins (DEAK) – I know someone
with the last name Deak so that’s how I remember
● CNS abnormalities
● Peripheral nervous system abnormalities
Vitamin K deficiency
● Can be due to oral anticoagulants
● Coagulopathy
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Inadequate synthesis of prothrombin
● Gingival bleeding
● Uncontrolled = death due to
systemic hemorrhage
Pituitary Dwarfism
● Short
● Body proportions are appropriate
● Delayed eruption of teeth
Gigantism
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Enlarged sella due to pituitary adenoma
Pituitary adenoma may =
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Hypothyroidism
Hypoadrenocorticism
20% are due to McCune-Albright Syndrome
Macrodontia
Bigger:
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Hands
Feet
Mandible
Acromegaly
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Pituitary adenoma
HTN
Arthritis
Hyperhidrosis
Heart disease
Peripheral neuropathy
Big:
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Hands
Feet
Skull
Jaws
Soft tissue can hypertrophy
Anterior open bite
Macroglossia
Hypothyroidism
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Lethargy
Dry, corase skin
Facial swelling
Husky voice
Constipation
Weakness
Fatigue
Myxedema = deposition of gags in
subcutaneios tissues = nonpitting edema
Thick lips in myxedema
Delayed teeth eruption in cretinism
Hyperthyroidism AKA Thyrotoxicosis AKA Graves’ Disease
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Weight loss
Tachycardia
Sweating
Increased systolic & decreased diastolic
pressure
Warm skin
Tremor
Exophthalmos (GAGs in the retroorbital
CT)
Hypoparathyroidism
● Results in hypocalcemia
● Chvostek’s sign = twiching of the
upper lip when facial nerve is tapped
below zygomatic process
● If child
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Pitting enamel hypoplasia
Failure of eruption
Hyperparathyroidism
● Primary = uncontrolled PTH production
● Syndromes:
● MEN type 1
● MEN type 2a
● Hyperparathyroidism-jaw tumor syndrome
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Multiple jaw lesions consistent with central cemento-ossifying fibroma
Parathyroid carcinoma
● Secondary = PTH produced to lack of serum calcium
● Renal disease – kidney can’t produce vit D which is necessary for
Ca++ absorption from the gut
Hyperparathyroidism
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Stones
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Bones
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Renal calculi & metastatic calcium calcifications
Subperiosteal resorption of phalanges of index &
middle fingers
Ground glass in the jaw
Brown tumor: Mandible, clavicles, ribs, pelvis
Osteitis fibrosa cystica – central degeneration &
fibrosis of long-standing brown tumors
Renal osteodystrophy causing jaw enlargement in
ESRD
Abdominal groans
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Duodenal ulcers
Addison’s Disease AKA Hypoadrenocorticism
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When 90% of the gland is destroyed:
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Fatigue & weakness
Irritability
Depression
Hypotension
GI upset
Salt cravings
Hyperpigmentation of skin (bronzing)
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Increased beta-lipotropin or ACTH, which
stimulate melanocytes
Oral tissues can become pigmented; often first
manifestation of disease
Vitamin D-Dependent Rickets
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AR
Hypocalcification of the teeth
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This is unlike those with vitamin D-resistant rickets
Otherwise exactly the same clinically
Uremic Stomatitis
● Acute renal failure
● White plaques on the:
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Buccal mucosa
Tongue
FOM
● Unpleasant taste/pain
● Ammonia odor
Synovitis-Acne-Pustulosis Hyperostosis-Osteomyelitis
(SAPHO) syndrome
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Inflammation of synovial membrane
Acne of face & back
Palmar/plantar pustulosis
Bony outgrowths
Primary chronic osteomyelitis
Chronic Recurrent Multifocal Osteomyelitis
● Primary chronic osteomyelitis
● No infection
● Only part of SAPHO syndrome if extragnathic
manifestations