Rare Diseases Symptoms Automatic Extraction

Junctional epidermolysis bullosa in a female Nigerian child: a case report.

[junctional epidermolysis bullosa]

To report the case of Junctional Epidermolysis bullosa seen in the University of Calabar Teaching Hospital, Calabar and to draw attention to the existence of this condition among Nigerians.A Nigerian female infant, normal at birth, developed extensive blistering skin eruptions from the age of ten days. The lesions involved the face, neck, shoulders, upper trunk and the buccal mucosa of the lower lip sparing the limbs. The cornea were cloudy. The history, type and distribution of the lesions were consistent with Junctional Epidermolysis bullosa (EB). This was confirmed by skin biopsy and histology. Various medications including systemic and topical steroids, antibiotics and other topical creams only produce transient relief with frequent relapses. The Junctional EB type is known to be autosomal recessive in inheritance though there was no positive family history. Avoidance of heat, warm bath and trauma and genetic counseling can be helpful in reducing frequent relapses of the condition that has no specific treatment.This appears to be the first case of Epidermolysis bullosa to be reported from Calabar, south eastern Nigeria. This case report shows that this rare condition does affect people in the tropics. Efforts should always be made to reach a definitive diagnosis whenever unusual conditions are encountered in clinical practice.

Diseases presenting "specific treatment" symptom

  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • benign recurrent intrahepatic cholestasis
  • canavan disease
  • classical phenylketonuria
  • cystinuria
  • esophageal adenocarcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • severe combined immunodeficiency
  • werner syndrome

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