Abstract:Aplasia cutis congenita (ACC) is a heterogeneous group of disorders whose common characteristic is focal absence of skin. In the majority of instances this is limited to the scalp, although other areas of the body may also be involved. Other congenital malformations have been reported to occur with AAC; limb decects appear to be a specific association. Given our experience with AAC, we suggest a classification based on genetically distinct entities. Type I AAC is limited to the scalp. Type II involves body or scalp; IIA invoves body or limb defects. Type III is limited to the scalp or limbs. Type IV is associated with epidermolysis bullosa; type IVA is Bart syndrome. Although most reported cases have been sporasdic, there are may familial occurrences of all types of ACC. Most published pedigrees are consistent with authosomal dominant inheritance with reduced penetrance, or autosomal recessive inheritance. Careful examination of family member of affected individuals is warranted.
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