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epidermolysis bullosa lethalis


Definition: a form of epidermolysis bullosa characterized by persistent and nonhealing perioral and perinasal crusted lesions with bullae often present in the oral mucosa and trachea, but not on the palms and soles, complicated by dermal sepsis and serum protein and electrolyte loss leading to death; autosomal recessive inheritance, caused by mutation in any one of the three distinct polypeptides of laminin-5; alpha-3 (LAMA3) on chromosome 18q, beta-3 (LAMB3) and gamma-2 (LAMC2) on 1q or the gene encoding integrin, beta-4 (ITGB4) on 17q.

Synonym(s): epidermolysis bullosa, junctional type, Herlitz syndrome

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.