Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). ... Aplasia cutis congenita (ACC) is defined as congenital localized absence of skin. The skin appears as a thin, transparent membrane through which the underlying structures are visible. The location is usually on the scalp (Evers et al., 1995). Approximately 20 to 30% of cases have underlying osseous involvement (Elliott and Teebi, 1997). Autosomal dominant inheritance is most common, but recessive inheritance has also been reported. Cutaneous aplasia of the scalp vertex also occurs in Johanson-Blizzard syndrome (243800) and Adams-Oliver syndrome (AOS; 100300). A defect in the scalp is sometimes found in cases of trisomy 13 and in about 15% of cases of deletion of the short arm of chromosome 4, the Wolf-Hirschhorn syndrome (WHS; 194190) (Hirschhorn et al., 1965; Fryns et al., 1973). Evers et al. (1995) provided a list of disorders associated with aplasia cutis congenita, classified according to etiology. They also tabulated points of particular significance in history taking and examination of patients with ACC.
Tisserand-Perrier (1953) reported a 3-generation family with aplasia cutis congenita restricted to the skull vertex. Parent and child were affected in at least 3 families and sibs and cousins in others (Hodgman et al., 1965). Cutlip et al. ... Tisserand-Perrier (1953) reported a 3-generation family with aplasia cutis congenita restricted to the skull vertex. Parent and child were affected in at least 3 families and sibs and cousins in others (Hodgman et al., 1965). Cutlip et al. (1967) reported affected mother and child. Pap (1970) described 4 persons in 3 generations. Deeken and Caplan (1970) described a father and 2 sons, who had 2 reportedly affected collateral relatives. Their series also contained 2 pairs of affected sibs. Anderson et al. (1979) reported a family with aplasia cutis congenita in 3, and possibly 4, generations in a total of 7 or 8 affected persons. In 4 of these there was also unilateral facial palsy and in 6 there was ear abnormality, usually lop ear. No male-to-male transmission was noted. Stevenson and DeLoache (1988) reviewed the causes of ACC on the basis of 7 families, one of which had twins concordant for ACC. The authors speculated that the scalp defect 'marks the point of final separation of monozygous twins.' In their case, 1 twin had the typical ACC lesion, whereas the other had a slightly raised skin lesion at the same location. Gucuyener et al. (1992) observed ACC in 3 sibs. Dunn (1992) pointed out that litigation may be brought against obstetricians because parents believe their child's scalp was injured during surgical induction of labor or by a fetal scalp electrode. Elliott and Teebi (1997) reported 2 unrelated families with vertical transmission of aplasia cutis congenita. The first family involved 3 generations of affected individuals. There was 1 instance of male-to-male transmission. The second family contained 2 affected half brothers with a common father. There was no apparent consanguinity and the family history was otherwise unremarkable. The father was not available for study. Park et al. (1998) reported a newborn male with almost complete absence of skin and subcutaneous tissue associated with choanal atresia, syndactyly, imperforate anus, pulmonary hypoplasia, and other anomalies. The child was karyotypically normal. Gnamey et al. (2010) reported a male infant with focal dermal hypoplasia (FDH; 305600) who also had an extensive area of aplasia cutis congenita of the scalp vertex, with cerebral structures visible through the defect. The patient died at 23 days due to neurologic complications. Gnamey et al. (2010) reviewed 18 previously reported cases of FDH and stated that this was the first in which there was associated aplasia cutis congenita. Yagci-Kupeli et al. (2011) described a mother, son, and daughter with aplasia cutis congenita; a maternal uncle was reportedly affected. One of the children also had unilateral right hand preaxial polydactyly but no other clinical or radiologic limb defects, including reduction defects. The authors suggested that the family had ACC or a mild form of Adams-Oliver syndrome (see 100300) with preaxial polydactyly as a feature.