Bangladesh JOURNAL of Child Health

Junctional Epidermolysis Bullosa: A Case Report


Introduction Epidermolysis bullosa (EB) is a heterogenous group of diseases of the skin and mucous membranes which share the common feature of the formation of blisters and erosions in response to minor mechanical trauma. These disorders often have been referred to as mechanobullous diseases. Diagnosis is based on clinical symptomatology, histopathology, electron microscopy and genetic studies.1However in a resource limited setting, the diagnosis is mainly clinical. Age of onset, symptomatology and prognosis of various subtypes are varied.2Most cases of EB are inherited.3,4 A comprehensive classification based on clinical presentation, genetic pattern of inheritance and electron microscopic features was proposed in 1991 by the subcommittee of the National EB Registry.5 EB is classified into major 3 groups by the level at which separation occurs: EB simplex (EBS), is characterized by intraepidermal blistering, is usually inherited in an autosomal dominant manner with complete penetrance. Junctional EB (JEB), an autosomal recessive disease, demonstrate cleavage within the lamina lucida. Dystrophic EB (DEB) is characterized by separation of the sublamina densa and may be inherited as an autosomal dominant or recessive disease. The incidence of EB estimated by a National EB Registry report is 50 EB cases per 1 million of live births; of these cases, approximately 92% are EBS, 5% DEB, 1% JEB and 2% unclassified.3We describe a patient with JEB (which has an incidence of 1%) who was managed accordingly.

 

Download PDF