Aplasia cutis congenita: Difference between revisions

	Aplasia cutis congenita
	Classification and external resources
	Aplasia cutis congenita
ICD-10	Q84.8 (ILDS Q84.810)
OMIM	107600
DiseasesDB	32731

VisualWikitext

Revision as of 17:08, 31 July 2012

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.

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

Template:Congenital malformations and deformations of integument

Template:Genodermatoses-stub it:Aplasia congenita della cute

[Fitz2-1] Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

[Andrews-2] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

[doi:10.1136/jmg.2008.062034-3] 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.

[4] Online Mendelian Inheritance in Man (OMIM) 107600

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@@ Line 20: / Line 20: @@
 ==Overview==
-'''Aplasia cutis congenita''' <ref name="Bolognia">{{cite book |author=Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages= |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}}</ref>) 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>
+'''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==
 ===Genetics===