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March 1966

Congenital Localized Absence of Skin and Associated Abnormalities Resembling Epidermolysis BullosaA New Syndrome

Author Affiliations


From the University of Minnesota, Minneapolis, Division of Dermatology (Dr. Bart and Dr. Lynch), Department of Oral Pathology, School of Dentistry (Dr. Gorlin), Dight Institute for Human Genetics (Dr. Anderson).

Arch Dermatol. 1966;93(3):296-304. doi:10.1001/archderm.1966.01600210032005

A syndrome consisting of congenital absence of skin, affecting the lower extremities, blistering of skin and mucous membranes, and congenital absence and deformity of nails, is described in a kinship. The mode of inheritance is that of a fully penetrant, autosomal dominant gene. Expressivity of the syndrome is variable. Review of the congenital localized aplasias of skin and of the various forms of epidermolysis bullosa suggests that this may be a new syndrome.