Congenital Defect of Scalp and Skull in Three Generations of One Family

Familial Nonmembranous Aplasia Cutis of the Scalp

“…Only articles with available photographs were selected for evaluation. We identified 16 articles with good quality clinical pictures of 47 members in 20 pedigrees affected with familial aplasia cutis (Table 1) (6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). In most instances, an autosomal dominant inheritance was suggested.…”

Aplasia Cutis Congenita of the Scalp

“…None of our 16 patients had a pattern of inheritance or the documented influence of noxious factors. Evidence suggests genetic 4,6–8,10,12 and external 5,8,9,14,17 factors. In some patients with aplasia cutis congenita, the coexistence has been observed of defects of other body areas, especially when chromosome abberations were detected 5–7,15,17 .…”

“…Single cases of this anomaly have been described. In some of these cases the children also had other congenital defects of the head and other sites 2–16 …”

“…ACC of the scalp has been described in sporadic cases or chromosomal abberations; familial prevalance has also been encountered. Damage to the fetus may also be caused by some viruses or drugs taken by the mother during pregnancy 4–7,9–11,14,17,18 …”

Letters to the Editor

“…Aplasia cutis congenita (ACC) may be looked upon as a syndrome, descriptive or localized, involving several organs or systems. In many presentations in the literature, 1,2 the congenital absence of skin has been solely described in the scalp area, thus entitled “congenital defect of scalp” with or without skull involvement. Goldsmith in 1922, 3 Rosenbaum in 1951, 4 and Bourreau in 1961 5 suggested that in these types of localized skin agenesis the mode of inheritance is autosomal dominant.…”