Diseases in pictures By Prof. Pushpa Raj Sharma These pictures are - - PDF document

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

• 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.

• 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-α 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

• f 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

• rganisms 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

• n 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 and with body temperatures of 37.8 to 39.4C (100 to 103F) of 3 to 5 days' duration. The skin lesionsthe hallmark of the infectioninclude maculopapules, vesicles, and 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

• ther 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 already- considerable 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

• ne 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

• ccur 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

• f 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.