Ann Dermatol.  2017 Oct;29(5):663-665. 10.5021/ad.2017.29.5.663.

A Familial Case of Aplasia Cutis Congenita in Two Korean Siblings: A Review of Genetic Aspects

Affiliations
  • 1Department of Dermatology, Seoul National University College of Medicine, Seoul, Korea. oskwon@snu.ac.kr
  • 2Laboratory of Cutaneous Aging and Hair Research, Biomedical Research Institute, Seoul National University Hospital, Seoul, Korea.
  • 3Institute of Human-Environment Interface Biology, Medical Research Center, Seoul National University, Seoul, Korea.

Abstract

No abstract available.


MeSH Terms

Ectodermal Dysplasia*
Humans
Siblings*

Figure

  • Fig. 1 (A) Clinical manifestation of irregular crusted skin defects at one month after birth. (B) Clinical features with non-hairy large shiny scar at 18 months after birth. (C) His 8-year-old brother also presented with scalp aplasia cutis congenita (ACC). (D) Histopathological findings revealed dermal fibrosis with absence of adnexal structure, consistent with ACC (H&E, ×200).


Reference

1. Jin SY, Kim DH, Lim WS, Choi YS, Lee AY, Lee SH. Aplasia cutis congenita in two siblings. Korean J Dermatol. 2012; 50:714–717.
2. Kim JY, Lee YK, Ko SY, Kim KA, Shin SM. Clinical course of aplasia cutis congenita. J Korean Soc Neonatol. 2011; 18:359–364.
Article
3. Lim JH, Park H, Kim JW, Yu DS. A case of aplasia cutis congenita in two siblings. Korean J Dermatol. 2010; 48:517–520.
4. Kim YJ, Jee YH, Lee CH, Kim YC, Cinn YW, Kim EJ, et al. A case of Adams-Oliver syndrome which was observed in two brothers. J Korean Soc Neonatol. 2001; 8:171–174.
5. Kim HS, Hwang SJ, Kim CH, Kim DC, Park HR. Aplasia cutis congenita: a case report. J Korean Soc Plast Reconstr Surg. 1994; 21:365.
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