Aplasia cutis congenita

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

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Kalsang Dolma, M.B.B.S.[2] Kiran Singh, M.D. [3]

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.

Diagnosis

Physical Examination

Skin

Head
Trunk

See also

References

  1. Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  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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