Generalized epidermolysis bullosa with congenital synechiae, associated malformations and unusual ultrastructure: a...

A male newborn presented at birth with marked skin fragility and widespread erosions of the face, scalp, trunk and extremities. Abnormal associated findings included: cleft palate, hypoplastic low-set ears, bilateral synechiae of the first and second toes, incomplete fusion of both eyelids, and dystrophic nails. There was no evidence of consanguineous parentage. The karyotype was normal. The baby died at 3 days of age because of pulmonary distress. As demonstrated by light and electron microscopy, there were both epidermolytic and dermolytic features. Desmosomes and tonofilaments were decreased in most basal cells. Hemidesmosomes were normal. Anchoring fibrils were rare. This type of epidermolysis bullosa does not fit any known categories of disease.