PubMed · 6548937
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J Dort, J Fabianová, F Losan. 1984. [Anhidrotic ectodermal dysplasia].. https://pubmed.ncbi.nlm.nih.gov/6548937/
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Two cases of aplasia cutis congenita are reported here. One of the cases also had pre- and postaxial polydactyly and other digital anomalies.
The association between epidermolysis bullosa (EB) and congenital pyloric atresia (CPA) is rare, but is known distinct clinical entity with autosomal recessive inheritance. The outcome of such an association was universally fatal. This is a report of two newborns with EB and CPA, associated with additional aplasia cutis congenita in one case. One patient was treated postoperatively with phenytoin and survived. Aspects of the diagnosis, pathogenesis, and management are also discussed.