Some Genodermatoses
and Acquired
Syndromes Part 2
Rick Lin, DO MPH
KCOM Dermatology Department
Texas Division
Sjogren-Larsson Syndrome
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Ichthyosis
Spastic paralysis
Oligophrenia
MR
Degenerative retinitis
Flexural and lower abdominal accentuation
Central face is spared
Ectropion is unusual
Palms and soles are involved
Sjogren-Larsson Syndrome
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Autosomal recessive, localized to
chromosome 17p11.2
Fibroblast and leukocyte deficiency in fatty
aldehyde dehydrogenase (FALDH)
Refsum’s Syndrome
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Ichthyosis with atypical retinitis pigmentosa
Hypertrophic peripheral neuropathy
Cerebellar ataxia
Nerve deafness
EKG changes
Deficiency of phytanol-CoA hyroxylase
localized in chromosome 10
Rud’s Syndrome
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Ichthyosis
Hypogonadism
Small stature
Mental retardation
Epilepsy
Macrocytic anemia
Retinitis pigmentosa
AR
KID Syndrome
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AKA congenital ichthyosiform syndrome with
deafness and keratitis
Extensive congenital ichthyosiform eruption
Neurosensory deafness
Hypotrichosis
Partial anhidrosis
Vascularization of cornea
Nail dystrophy
Tight heel cords
CHILD Syndrome
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AKA
Congenital Hemidysplasia with
Ichthyosiform Erythroderma and
Limb Defects
(CHILD)
X-linked, female only
Unilateral ILVEN
Erythrokeratodermia Variabilis
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AKA Medes da Costa, erythrokeratoderma
variabilis, etc
Keratoderma of palms and soles
AD, 1p34-p35, coding for gap junction protein
Histo: hyperkeratosis with parakeratosis and
diminished granular layer
Progressive Symmetric
Erythrokeratodermia
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Rare, AD
Symmetrically distributed on extremities,
buttocks, and spare the trunk
Treatment include keratolytics,
corticosteroids, retinoids.
Acquired Ichthyosis
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Similar to ichthyosis vulgaris clinically
Develop any age with several systemic diseases
Hodgkins
Non-hodgkins lymphoma
MF
Multiple myeloma
CA
Hypothyroidism
Pityriasis Rotunda
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Perfectly circular, hyperkeratotic and
hypopigmented macules
2 forms:
Type 1 found in blacks and Asians, has
hyperpigmented lesions with less than 30 in
numbers
Type 2 occur in white patients, has
hypopigmented lesions with more than 30 in
numbers.
There is slight psoriasiform hyperplasia with compact
orthokeratosis and a diminished granular layer.
Keratosis Pilaris
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AD condition
Facial involvement may be mistaken for acne
Keratolytic and topical vitamin D and topical
retinoids are effective
Follicular Atrophoderma
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Consist of follicular indentation
1mm wide, without hair
Extensor surface of hands, legs, and arms
Keratosis Pilaris Atrophicans
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Three syndromes
Keratosis pilaris atrophicans faciei
Atrophoderma vermiculata
Keratosis pilaris follicularis spinulosa
decalvans
Keratosis Pilaris Atrophicans
Faciei and Ulerythema
Ophoryogenes
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Persistent erythema and small horny follicular
papules onset during childhood
On involution these leave pitted scars and
atrophy with resulting alopecia
Ulerythema Ophoryogenes describes
involvement limited to the lateral third of the
eyebrow
KPAF involvement extent to the cheek and
forehead
Atrophoderma Vermiculata
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Symmetrical involvement of face by
numerous closely crowded small areas of
atrophy separated by narrow ridges.
Honeycomb surface
Worm eaten (vermiculata)
Rambo Syndrome
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Grainy skin
Multiple BCCs, triepitheliomas, hypotrichosis
Perculiar cyanosis of the hands and feet
2 patients reported
Examples of the entity I will chose to skip.
Keratosis Follicularis
Spinulosa Decavans
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KFSD begins on the face at any age up to
adolescence
Involve limbs and trunk
Hyperkeratosis of palms and soles
Follow by loss of hair and scarring
Cicatricial alopecia of scalp and eyebrow is
the hallmark of this disease
Porokeratosis
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Heterogenous group of disorders
Characterized by cornoid lamella on histology
Porokeratosis of Mibelli
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Chronic progressive disease
Atrophic patches surround by elevated border
Predilection are the surface of hands and
finger and the feet and ankle
Onset early in life and persist indefinitely
Treatment: 5FU, Cryo, CO2
Disseminated Superficial
Actinic Porokeratosis
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DSAP is numerous superficial annular
keratotic brownish red papules
More common in women
Assn with AIDS, cirrhosis, Crohn’s,
immunosupression
Cryo and 5-FU
Linear Porokeratosis
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Porokeratosis following lines of Blaschko
Porokeratosis Palmaris,
Plantaris, et Disseminata
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Palms and sole or both
Darier’s Diseases
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AKA Keratosis Follicularis
Dirty, warty, papular excrescences tend to coalesce
into patches
Punctate keratosis
V-nicking and red white banding
Worse in summer
AD
1:100,000
Corps ronds and grains
Treatment: Tazarac and Accutane.
Acrokeratosis Verruciformis of
Hopf
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Numerous flat verrucous papules on back of
the hands, knees, and elbows
AD
Pachyonychia Congenita
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Excessively thickened nails of all fingers and
toes
Palmar and plantar hyperkeratosis
Follicular keratosis
Painful friction blisters may develop
4 types have been described. Type one most
common
Dyskeratosis Congenita
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Atrophy and reticular pigmentation of sky
Dystrophy of the nails
Leukoplakia
Hyperhidrosis of palms and soles
Skeletal anomalies and esophageal stricture
X-linked recessive traint
Xq28 locus
Congenital Ectodermal Defects
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Hypohidrotic ectodermal dysplasia
Hidrotic ectodermal dysplasia
And tons of other ones
Hypohidrotic Ectodermal
Dysplasia and Anhidrotic
Ectodermal Dysplasia
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Hypotrochosis
Anodontia
Hypohidrosis to anhidrosis
Absent or reduce sweating
Eccrine glands are absent or rudimentary on
biopsy
Facies suggest congenital syphilis
X-linked recessive
Note the
peg-shaped
teeth,
hypodontia,
periorbital
hyperpigme
ntation and
sebaceous
hyperplasia.
Note the flat nasal
bridge, depressed
nasal tip, sparse hair
(scalp, eyebrows,
eyelashes), pegshaped teeth, full lips
and sebaceous
hyperplasia. Also note
the normal secondary
hair in adults.
Hidrotic Ectodermal Dysplasia
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Clouston’s syndrome
Active eccrine sweat gland
Facial feature normal
AD
Alopecia, nail dystrophy, palmoplantar
hyperkeratosis
Cataracts and strabismus
13q11-q12.1
Bunch of the entities I skip
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EEC S.
Rapp-Hodgkin Ectodermal Dysplasia s.
Ectodermal dysplasia with corkscrew hair s.
Odonto-tricho-ungual-digital-palmar s.
Costello s.
Lenz-Majewski s.
Naegeli-Franceschetti-Jadassohn s.
CHIME s.
Pachydermoperostosis
Ladd-Lin s.
Cutis Verticis Gyrata
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Folds and furrows on the scalp
Vertex is involved
M:F=6:1
90% patient developed by age 30
Assn with MR and schizophrenia
Aplasia Cutis Congenita
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Congenital defect of the skin
Absence of skin and subcutaneous tissue of
the cranium
Focal Dermal Hypoplasia
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AKA Goltz’s Syndrome
Syndactyly, oligodactyly, and adactyly
Multiple abnormality of mesoderma and
ectodermal tissues
Yellowish brown nodules on buttocks, axillae,
and thighs
X-linked dominant
Cockayne’s Syndrome
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Dwarfism
Retinal atrophy
Deafness
Photodermatitis
Telangiectasia
Microcephaly, sunken eyes, and
characteristic facial appearance
Werner’s Syndrome
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Aka adult progeria
Premature-aging syndrome
Growth arrest at puberty
Senile cataracts in late 20
Premature graying and balding at 30’s
High rate of malignancy
Progeria
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AKA Hutchinson-Gilford Syndrome
Dwarfism
Alopecia
Generalized atrophy of the skin
Enlarge head
Fatal by second decade
Congenital Auricular Fistula
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Anomaly occurs in preauricular region
Anterior to external ear there is a small
dimple, pore, or fistulous opening
Scrofuloderma or EIC may develop
Branchial Cleft Cyst
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Developmental anomaly
Exude sebum like material
AD with incomplete penetrance
Popliteal Pterygium Syndrome
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Pterygia or skinfold may extend from thigh
down to heel thus prevent extension or
rotation of the legs
AD
Other Congenital Anomalies
that we will all miss together
on the board….
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Franceschetti-Klein syndrome
Apert’s Syndrome
Whistling Face syndrome