Congenital Skin Defects

Abstract

The so-called congenital skin defects have not been recorded frequently in the literature. The majority of the accessible reports deal with skin defects of the scalp, which vary in size from a pinpoint to a small coin. They are usually circular in shape, sometimes oval or irregular, and generally have clean-cut edges. The first authentic case seems to have been recorded by an English physician, Campbell, who in 1826 reported a skin defect of the scalp the size of a crown, which assumed the characteristics of a progressive ulcer. Priestley, in 1859, reported a congenital skin defect over the anterior fontanel about the size of a shilling. The defect healed in a short time, the process of repair beginning at the edge of the ulceration. Billard, in 1828, reported a case of skin defect over the parietal bone supposed to have been caused by a uterine polyp of the mother. Emanuel, in 1905, reported an infant with congenital absence of skin involving hands, legs and feet. The child was born dead. There was no evidence of syphilis. Numerous reports have been published from time to time which will be referred to in tabulated form and in the references at the end of the article. Most writers on the subject of congenital defects attribute them either to errors in development, or to inflammatory adhesions between the external layers of the skin and the amnion. At the point where this adhesion has taken place, the growth of flat epithelium is retarded. As the liquor amnii accumulates, the so-called Simonart's bands are formed. These are adhesions which form threads or bands between the amnion and the fetus. If these bands are torn loose from the integument of the fetus, a skin defect remains. Not infrequently, these skin defects are associated with other congenital malformations, for instance, with deformities of the extremities such as deficient fingers, hands, or feet. As has already been noted, the lesions are found most frequently on the scalp. They may occur, however, on the trunk, though in one case reported by Bürger, in addition to the scalp defect, ulcerating lesions occurred on both knees and on both elbows. Macé reported an infant who at the time of birth showed these characteristic defects Read at the meeting of the American Pediatric Society, White Sulphur

Aplasia Cutis Congenita with Dystrophic Nail Changes

“…The bald areas on the scalp of our adult had several tufts of normal hair. The cicatricial tissue in aplasia cutis is devoid of epidermal accessory structures though the eventual developmet of hair has been reported [12]. We have done a punch biopsy from a hyper trophic scarred area on the trunk and the histologic features were compat ible with aplasia cutis and resembled the histologic description in the two late reports by Rudolph el al.…”

Extensive Congenital Absence of Epidermis

“…1), of both upper limbs and from the ventral aspect of the distal third of thighs, knees and superior part of legs. There were no other obvious congenital defects of bones, nails, hair or skin, as reported by others [3,4,9], The placenta appeared normal. The infant died 3 h after delivery.…”

“…The familial incidence of some of the cases point towards a possible genetic defect. A bt [4] explained his cases on the basis of inflam matory adhesions between the external layers of the skin and the amnion. This theory does not explain the symmetry of some of the reported lesions and certainly not the familial incidence of other cases.…”

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

“…Aplasia cutis congenita (ACC) was first described more than 150 years ago by Campbell (1), who reported two siblings with absence of the skin on the vertex of the scalp. Since that report, there have been numerous publications of sporadic and familial instances of classic ACC of the scalp , ACC involving the body (4,20,25,27,37,39,(43)(44)(45)(46)(47)(48)(49)(50)(51)(52)(53), in association with limb defects (12,15,17,27,29,39,(54)(55)(56)(57)(58)(59)(60)(61)(62)(63)(64)(65)(66), and with epidermolysis buUosa (67)(68)(69)(70)(71)(72)(73)(74)(75)(76)(77)(78)(79)(80)…”