Aplasia cutis congenita: Difference between revisions
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==Overview== | ==Overview== | ||
'''Aplasia cutis congenita''' | '''Aplasia cutis congenita''' 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.<ref name="Fitz2">Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.</ref> <ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.</ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
===Genetics=== | ===Genetics=== | ||
Revision as of 17:08, 31 July 2012
| 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 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.[1] [2]
Pathophysiology
Genetics
This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19. [3]
Associated Conditions
It can be associated with
It is also seen with exposure to Methimazole and/or Carbimazole in utero.
See also
References
- ↑ 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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