Aplasia cutis congenita
| Aplasia cutis congenita | |
| Classification and external resources | |
| |
|---|---|
| Aplasia cutis congenita | |
| ICD-10 | Q84.8 (ILDS Q84.810) |
| OMIM | 107600 |
| DiseasesDB | 32731 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[2]
Synonyms and keywords: Cutis aplasia, Congenital absence of skin, Congenital scars
Overview
Aplasia cutis congenita [1]) is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.[2][3]
Pathophysiology
Genetics
This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. [4]
Associated Conditions
It can be associated with
It is also seen with exposure to Methimazole and/or Carbimazole in utero.
See also
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Malan, Valerie; et al. "array-CGH recognizable genetic condition identified by 19q13.11 deletion syndrome: a novel clinically". J. Med. Genet. Retrieved April 8, 2009.
- ↑ Online Mendelian Inheritance in Man (OMIM) 107600
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