Epidermolysis bullosa, lethal acantholytic Q82.8

Jonkman et al (2005).

Very rare, worldwide, autosomal recessive, severe and fatal epidermolysis bullosa simplex with suprabasal cleft formation. This genodermatosis is caused by biallelic mutations in the desmoplakin or plakoglobin genes. The mutations result in the absence or loss of function of these structural proteins in the inner plaques of desmosomes which is easily demonstrated by direct immunofluorescence studies of lesional skin (Jonkman MF et al 2005).

From birth onwards, the skin and mucous membranes are extremely fragile. Already in the first days of life there is extensive epidermolysis which can amount to up to 90% of the body surface (Jonkman MF et al. 2005). Other symptoms include alopecia, anonychia, syndactyly and clindactyly, dysmorphic ears with prominent antihelices (Bolling MC et al 2010). Death occurs within a few weeks due to infection and fluid loss.

Suprabasal cleavage in the epidermis with spongiosis and acantholysis. Electron microscopy reveals the absence of anchoring filaments in the inner desmosomal plaques of the desmosomes as well as a reduced number of desmosomes.

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