Junctional epidermolysis bullosa with pyloric atresia (JEB-PA, OMIM 226730) is a rare autosomal recessive genodermatosis characterized, as primary manifestations, by neonatal blistering of the skin and mucous membra-

© 2013 The Authors. doi: 10.2340/00015555-1381 Journal Compilation © 2013 Acta Dermato-Venereologica. ISSN 0001-5555 Junctional epidermolysis bullosa with pyloric atresia (JEB-PA, OMIM 226730) is a rare autosomal recessive genodermatosis characterized, as primary manifestations, by neonatal blistering of the skin and mucous membranes associated with foregut obstruction (1, 2). Aplasia cutis congenita, genitourinary tract abnormalities, nail dystrophy, enamel hypoplasia, corneal erosions, respiratory tract involvement and lack of prominent granulation tissue formation represent additional features of this disorder (3). In most cases, affected children die of systemic complications despite the surgical correction of the foregut obstruction (3). However, non-lethal forms of JEB-PA have also been reported (4, 5). JEB-PA is caused by mutations in either of 2 genes coding for α6β4 integrin (ITGA6, ITGB4) (2, 6). Lethal JEB-PA is generally caused by premature termination codons (PTC) on both alleles of the ITGB4 gene or, rarely, of the ITGA6 gene. Non-lethal JEB-PA is mainly caused missense or splicesite mutations in at least one of the alleles. However, the position in the domains of the β4 integrin may also affect the phenotype of JEB-PA (4). We report here a case of JEB-PA, due to compound heterozygous mutations in the ITGB4 gene, characterized by an extremely benign course of the skin disease and by the development of genitourinary abnormalities. CASE REPORT