Lethal epidermolytic epidermolysis bullosa: a new autosomal recessive type of epidermolysis bullosa.
A distinctive form of epidermolysis bullosa is reported among several members of a large Sudanese family. Although on ultrastructural grounds this appears to be simplex type, it is inherited as an autosomal recessive trait and is associated with a high mortality.
D000293:Adolescent; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008854:Microscopy, Electron; D010375:Pedigree; D011379:Prognosis; D012867:Skin / Q000648:ultrastructure*