Congenital Absence of Skin (Aplasia Cutis Congenita)

Walker, John C.; Koenig, Johann A.; Irwin, Lorne; Meijer, Robby

doi:10.1097/00006534-196008000-00007

Cited by 43 publications

(6 citation statements)

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“…Of 28 reports including six of our own, 12 were familial (29, 55, 56, 61, 62, 64-66) and 16 were sporadic (12,15,17,27,29,39,54,59,60,63). Again, examination of family members in the sporadic cases was extremely limited.…”

Section: Type IIImentioning

confidence: 86%

“…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)…”

Section: "mentioning

confidence: 99%

“…Among the nonfamilial cases, 15 were associated with a fetus papyraceous, and a thrombotic or vascular cause was proposed by Mannino et al (49). Four of the nonfamilial cases without a fetus papyraceous also had limb defects, which included one child with partial absence of phalanges and syndactyly, one with hypoplasia ofthe fifth digit, one with bilateral clubbed hands and feet, and one with a variety of reduction defects (12,58,59). We have included these four as a subgroup of type II.…”

Section: Type IImentioning

confidence: 99%

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

Sybert

1985

Pediatric Dermatology

114

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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.

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Section: Type IIImentioning

confidence: 86%

Section: "mentioning

confidence: 99%

Section: Type IImentioning

confidence: 99%

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

Sybert

1985

Pediatric Dermatology

114

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“…We report, to the best of our knowledge, probably the first case in the literature with bilateral symbrachydactyly of feet associated with aplasia cutis congenita of scalp [1,8,10,11,13,20,26,28,29]. This case seems to be a rare and possibly unreported presentation of AdamsOliver syndrome.…”

Section: Introductionmentioning

confidence: 68%

Coexistence of aplasia cutis congenita of the scalp with symbrachydactyly of bilateral feet: an unreported form of Adams-Oliver syndrome

Koçer¹,

Aksoy

Tiftikçioğlu

et al. 2001

Eur J Plast Surg

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A case report of aplasia cutis congenita of the vertex of the scalp associated with symbrachydactyly of both feet is presented. The Adams-Oliver syndrome, which is also known as Type 2 aplasia cutis congenita, is aplasia cutis congenita of the midline scalp seen together with congenital limb anomalies. Although various limb anomalies linked to aplasia cutis congenita have been described in the literature, we were not able to find any report of bilateral symbrachydactyly of the feet related to aplasia cutis congenita. Thus, this case seems to represent an unreported form of the AdamsOliver syndrome. Etiology, associated anomalies, treatment and complications of Adams-Oliver syndrome are reviewed.

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“…In contrast, the aplasias of the scalp usually result in scarring alopecia that may be extensive. 5 We describe herein a patient born with approximately 30% skin aplasia located both symmetrically and unilater¬ ally on the body as well as on the scalp.…”

mentioning

confidence: 99%

Aplasia cutis congenita. A follow-up evaluation after 25 years

Munkvad¹

1981

Archives of Dermatology

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Aplasia cutis congenita is a rare disease with less than 300 cases reported in the literature. A patient with extensive involvement of the skin was observed for 25 years. During adolescence, a reactive depression related to the residual cicatricial alopecia on the left side of the scalp developed. The psychiatric distress disappeared after corrective surgery was performed. It is recommended that patients with this disorder be regularly observed to select cases appropriate for early plastic surgery.

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Congenital Absence of Skin (Aplasia Cutis Congenita)

Cited by 43 publications

References 0 publications

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

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

Coexistence of aplasia cutis congenita of the scalp with symbrachydactyly of bilateral feet: an unreported form of Adams-Oliver syndrome

Aplasia cutis congenita. A follow-up evaluation after 25 years

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