title: [Herlitz, severe generalized atrophic epidermolysis bullosa. Description and genealogic clarification of 4 new cases from Unterwalden canton].
abstract: Four infants with congenital epidermolysis bullosa letalis Herlitz were admitted between 1971 and 1978 to the Children's Hospital, Lucerne. All four were from three related families from the same valley in the Canton of Unterwalden and died before the age of one year. Histological and ultrastructural examinations of skin specimens confirmed the diagnosis, but an attempt to detect heterozygous carriers by the same method failed. Genealogical analysis revealed a fourth affected family one generation back and multiple consanguinity among three of the four families, according to an autosomal-recessive inheritance. The pathogenesis, clinical findings, therapy and genetics in this disease are discussed, together with the particular population genetics of the area concerned.
mesh_terms: D003241:Consanguinity; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D013557:Switzerland
vernacular_title: Epidermolysis bullosa atrophicans generalisata gravis Herlitz Beschreibung und genealogische Abklärung von vier neuen Fällen aus dem Kanton Unterwalden.