Aplasia Cutis Congenita: A Report of 12 New Families and Review of the Literature

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 ACC; limb defects appear to be a specific association. Given our experience with ACC, we suggest a classification based on genetically distinct entities. Type I ACC is limited to the scalp. Type II involves body or scalp; IIA involves 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 sporadic, there are many familial occurrences of all types of ACC. Most published pedigrees are consistent with autosomal dominant inheritance with reduced penetrance, or autosomal recessive inheritance. Careful examination of family members of affected individuals is warranted.

Clinical and molecular analysis of nine families with Adams–Oliver syndrome

“…Consistent with previous reports, 3,20,21 we also observed a great intrafamilial clinical variability that is characteristic for AOS. A total of 20 patients were diagnosed having scalp defects and eight also had underlying skull defects.…”

“…The most frequently observed limb malformations in this disorder include syndactyly (bony/cutaneous), brachydactyly, polydactyly, oligodactyly and hypoplastic finger/toenails. 3 There is, however, a great variability in severity ranging from the complete absence of the foot or hand to only mild manifestations or normal appearance, as seen in obligate AOS carriers. 2 AOS is mostly inherited as an autosomal dominant trait but also a suggestive autosomal recessive mode of inheritance has been described.…”

A Case of Aplasia Cutis Congenita, Type VII

“…The condition encompasses a heterogeneous group of disorders with or without associated abnormal physical findings, malformation patterns, genetic disease, or a combination of these. Frieden 2 and Sybert 3 have proposed the classification of ACC on the basis of its associated abnormalities and inheritance patterns.…”

A Rare Presentation of Adams Oliver Syndrome - A Case Report

“…[1] Later on, intrauterine compression and amniotic band sequelae was suggested as a pathogenic factor. [7] Vascular impairment during embryogenesis has been proposed as a possible mechanism by several authors. [8] Teratogenic factors, intrauterineinfections such as chickenpox, zoster orsimple herpes, fetal exposure to cocaine, heroin, alcohol or antithyroid drugs have all been implicated in the etiopathogenesis also.…”