Deparatment of Child Health
Institute of Medicine
Diseases in pictures By Prof. Pushpa Raj Sharma
These pictures are the personal collection of the author from Kanti Chidlren’s Hospital,
Tribhuvan University Teaching Hospital and his personal clinic. Each picture is
described by their most important characteristic feature. These pictures were taken by
using Olympus D-520 Zoom camera.
Staphylococcal skin scalded syndrome:
In neonates, young children, and immunocompromised individuals enough toxin can be
produced by a localized infection and released into the blood stream to cause widespread
superficial exfoliation resulting in staphylococcal scalded skin syndrome. Most
individuals seem to acquire neutralizing antibodies to this toxin during childhood and
thus this disease tends to be restricted to the young or the immunoimpaired. Since the
toxin is primarily eliminated through the kidneys, patients with renal failure may also be
at risk. It should not be confused with the much more serious form of epidermal sloughing, toxic
epidermal necrolysis (TEN), which involves the loss of the entire epidermal surface, not just the
stratum corneum. TEN is a dermatologic emergency treated like a widespread burn injury and is
most often secondary to a drug reaction.
Ehlers-Danlos syndromes (EDS)
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue
disorders characterized by articular hypermobility, skin extensibility and tissue fragility.
Tonsiillitis
The typical findings are
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redder-than-normal tonsils
a yellow or white coating on the tonsils
a funny-sounding voice
swollen glands in the neck
fever
bad breath
Telangiectasia
Telangiectasias are found in areas of cutaneous inflammation. For example, lesions of discoid
lupus frequently have telangiectasias within them. Ataxia-telangiectasia (AT) is an autosomal
recessive genetic disorder characterized by cerebellar ataxia, oculocutaneous telangiectasia, and
immunodeficiency.
Tetralogy of fallot
A cyanotic congenital heart disease characterized by right ventricular hypertrophy,
pulmonary stenosis, ventricular septal defect (VSD), and dextroposition of the aorta.
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X-ray: boot-shaped (coeur en sabot)
 concavity of L cardiac border (no PA)
 normal heart size
 RVH -> elevation of apical shadow
diminished pulmonary vascularity
aortic arch to R in 20%
Achondroplasia
A non-lethal type of congenital dwarfism characterized by typical skeletal
dysplasias (rhizometric micromelia), a large head, and neurological
manifestations. There may be recurrent and multiple fractures. Limbs: rhizometric
micromelia,shortened limbs, proximal > distal shortening, elbows - lack of full
extension and supination ,legs - genu varum (bowleg), hands - trident (splayed),
deviated towards ulna, short and broad .
Acrodermatitis enteropathica
Acrodermatitis enteropathica is a rare autosomal recessive disorder characterized by
abnormalities in zinc absorption. Clinical manifestations include diarrhea, alopecia, muscle
wasting, depression, irritability, and a rash involving the extremities, face, and perineum. The
rash is characterized by vesicular and pustular crusting with scaling and erythema. In addition,
hypopigmentation and corneal edema have been described in these patients
Female pseudohermaphrodite
Overall, Congenital adrenal hyperplasia (CAH) is the most frequent cause of
ambiguous genitalia in the newborn, constituting approximately 60% of all intersex
cases. CAH produces a female pseudohermaphrodite, which is a gonadal female
with a virilized phenotype.
The basic biochemical defect is an enzymatic block that prevents sufficient cortisol
production. Biofeedback via the pituitary gland causes the precursor to accumulate
above the block. Clinical manifestation of CAH depends on which enzymatic defect is
present.
Café au lait spots
Neurofibromatosis (VON RECKLINGHAUSEN'S DISEASE) 1 is characterized by cutaneous
neurofibromas, pigmented lesions of the skin called cafe au lait spots, freckling in non-sun
exposed areas such as the axilla, hamartomas of the iris termed Lisch nodules, and
pseudoarthrosis of the tibia. Neurofibromas are benign peripheral nerve tumors composed of
proliferating Schwann cells and fibroblasts. They present as multiple, palpable, rubbery,
cutaneous tumors. They are generally asymptomatic; however, if they grow in an enclosed
space, e.g., the intervertebral foramen, they may produce a compressive radiculopathy or
neuropathy. Aqueductal stenosis with hydrocephalus, scoliosis, short stature, hypertension,
epilepsy, and mental retardation may also occur.
Cavernous haemangioma
A "cavernous hemangioma" is not a hemangioma but a venous malformation in which there is a
dearth of smooth muscle in the wall of a large thin venous structure lined by endothelium. These
never regress spontaneously, and neither glucorticoids nor IFN- are effective.
Clubbing
Hypertrophic osteoarthropathy (HOA) is characterized by clubbing of digits and, in more
advanced stages, by periosteal new bone formation and synovial effusions. HOA occurs in
primary and familial forms and usually begins in childhood. The secondary form of HOA is
associated with intrathoracic malignancies, suppurative lung disease, congenital heart disease,
and a variety of other disorders and is more common in adults. Clubbing is almost always a
feature of HOA but can occur as an isolated manifestation. The presence of clubbing in isolation
is generally considered to represent either an early stage or an element in the spectrum of HOA.
The presence of only clubbing in a patient usually has the same clinical significance as HOA.
Diaphragmatic Hernia
Congenital Diaphragmatic Hernia (CDH) occurs in about one in every 2,500 live births. Absence
of the diaphragm may occur on the left, right or both sides, but the left side is most common.
There is a wide discrepancy between the “visible” mortality reported from children’s centers,
which treat only those infants who survive gestation, birth, resuscitation, transport and often
major surgery, and the true mortality, based on all prenatally diagnosed cases, which has been
called the “hidden mortality” of CDH.
Exanthema subitum
Exanthema subitum had been speculated to be a viral disease although its pathogen is
unknown. Human herpesvirus 6 (HHV-6), first isolated in 1986, was proved by
Yamanishi et al. to be the causal agent of exanthema subitum. The typical presentation is
appearance of generalized macular rash when the fever subsides without other localizing
signs. The common age group affected are less than two years.
Caroli’s Disease
Caroli disease is a nonobstructive dilatation of the intrahepatic bile ducts. This is
a rare congenital disorder that classically causes saccular ductal dilatation, which
usually is segmental. Caroli disease is associated with recurrent bacterial
cholangitis and stone formation.
Caroli disease also is known as communicating cavernous ectasia or congenital
cystic dilatation of the intrahepatic biliary tree. It is distinct from other diseases
that cause ductal dilatation caused by obstruction. It is not one of the many
choledochal cyst derivatives.
Actinomycosis
Actinomycosis is a chronic, suppurating, granulomatous condition caused by bacteria
producing branching hyphae, such as Actinomyces israelii. Most commonly affecting the
cheek or mandibular skin, lesions can also be located in the thorax or elsewhere.
Actinomyces, produces a chronic fibrotic necrotizing process that crosses tissue planes
and may involve the pleural space, ribs, vertebrae, and subcutaneous tissue, with eventual
discharge of sulfur granules (macroscopic bacterial masses) through the skin (empyema
necessitatis).
Typically, there is a group of dull red nodules, with sinuses draining colonies of
organisms called "sulfur" granules.
In the mouth and elsewhere, the lesion extends from a focus of bone involvement, or
from some deeper focus.
Treatment:
- Long term (more than a year), high dose (10 million units daily) penicillin may be
required, with or without surgical debridement.
- Alternatives include imipenem and erythromycin.
Cornelia De Lange Syndrome
A disorder of unknown etiology resulting in a syndrome characterized by specific
dysmorphic features. The following clinical pictures are seen:
1. Head and Neck:
microcephaly +/- brachycephaly ,micrognathia ,low hairline ,low set ears ,dilated veins
on temples +/- forehead ,synophris (confluent eyebrows) ,long curly eyelashes ,broad
and/or depressed nasal bridge, anteverted nostrils, prominent philtrum ,thin upper lip,
downturned angles of mouth ,high arched palate, delayed eruption of teeth ,bluish tinge
around eyes, nose +/- mouth .
2. Extremities:
limitation of extension at elbows ,small hands and feet with short digits ,single transverse
palmar crease, clinodactyly of fifth fingers, proximally placed thumbs, webbing of 2nd
and 3rd toes .
3. Others:
mental retardation ,growth retardation ,hirsutism ,cutis marmorata, birth weight <2500g
,neonatal difficulty with feeding +/- respiration.
Chicken pox
Varicella-zoster virus (VZV) causes two distinct clinical entities: varicella (chickenpox)
and herpes zoster (shingles). The incubation period of chickenpox ranges between 10 and
21 days but is usually between 14 and 17 days. Secondary attack rates in susceptible
siblings within a household are between 70 and 90%. Patients are infectious
approximately 48 h prior to the onset of the vesicular rash, during the period of vesicle
formation (which generally lasts 4 to 5 days), and until all vesicles are crusted.
Clinically, chickenpox presents as a rash, low-grade fever, and malaise, although a few
patients develop a prodrome 1 to 2 days before onset of the exanthem. In the
immunocompetent patient, this is usually a benign illness that is associated with lassitude
scabs in various stages of evolution. These lesions, which evolve from maculopapules to
vesicles over hours to days, appear on the trunk and face and rapidly spread to involve
other areas of the body. Most are small and have an erythematous base with a diameter of
5 to 10 mm. Successive crops appear over a 2- to 4-day period.
Empyema
Pleural empyema is a common complication of pneumonia in children and increases the alreadyconsiderable morbidity associated with this infection. The commonest aetiological agent is S.
aureus which cause pneumonia without predisposing epidemiologic or host factors that favor
colonization of the respiratory tract and/or that impair defense mechanisms. Tuberculous
empyema is a less common complication of pulmonary tuberculosis. All of the cases needs
drainage with decortication which improves the lung function and reduces the duration of the
hospital stay.
Canavan Disease
Canavan disease is a severe progressive leukodystrophy characterized by swelling
and spongy degeneration of the white matter of the brain. It is an autosomal
recessive disease found more frequently among Ashkenazi Jews. This MRI is of a
one and half year old female child from Myagdi, Gandaki Zone, who presented with
the history of difficulty in walking for two months duration. The clinical features are
thse of severe mental retardation with inability to gain developmental milestones.
Hypotonia, head lag and macrocephaly are characteristic of Canavan disease and
become apparent after 5-6 months of age. Massive excretion in the urine of N-
acetylaspartic acid is the biochemical marker for Canavan disease, which is caused
by deficiency of the enzyme aspartoacylase. Computed Tomography (CT) scan of
the head or Magnetic Resonance Imaging (MRI) of the brain reveal diffuse white
matter degeneration. There is no treatment.
Kassabach-Merritt Syndrome
Kassabach-Merrit (KM) syndrome is a consumption coagulopathy that occurs as a
complication of angiomatous nevi. Angiomatous nevi leading to KM syndrome are
generally single, deep lesions of large size, but the disorder can vary occasionally and
occur in association with smaller and more superficial lesions. The responsible angiomas
most commonly occur on the trunk, neck and proximal parts of the limbs, particularly the
thighs and shoulders, and are relatively uncommon on the head. This picture is of an 2
month old infant who was brought to the pediatric outpatient department for evaluation
of a swollen left arm since birth. On examination the limb was enveloped by a rapidly
growing hemangioma. Although the child appeared well and the hemangioma was not
symptomatic, a small ulcer was noted near the elbow, and the platelet count was less
than 10,000.
Klippel Trenaunay Weber Syndrome
Klippel-Trenaunay syndrome is characterized by a triad of port-wine stain, varicose veins,
and bony and soft tissue hypertrophy involving an extremity. KTWS generally affects a single
extremity, although cases of multiple affected limbs have been reported. The leg is the most
common site followed by the arms, the trunk, and rarely the head and the neck. This
hemangioma has a distinct, linear border that respects the midline. Hemangioma is often
noted on the lateral aspect of the limb.It is typically of the nevus flammeus type, but
cavernous hemangiomas or lymphangiomas may also occur. Nevus flammeus is a salmon
pink patch, sometimes with a verrucous quality, which evolves to a deep purple color with
time. Unlike strawberry hemangiomas, the port-wine stain hemangioma possesses neither a
proliferative nor a regressing phase.