Aplasia cutis congenita

From Wikipedia, the free encyclopedia
Jump to: navigation, search
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
eMedicine article/1110134

Aplasia cutis congenita (also known as "Cutis aplasia," "Congenital absence of skin," and "Congenital scars"[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]:650[3]:572

It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome.[4] It is also seen with exposure to Methimazole and/or Carbimazole in utero. This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.[5]

Genetics[edit]

This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.[6]

See also[edit]

References[edit]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  4. ^ Online 'Mendelian Inheritance in Man' (OMIM) 107600
  5. ^ 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. 
  6. ^ Marneros AG (2013) BMS1 is mutated in Aplasia Cutis Congenita. PLoS Genet 9(6):e1003573. doi: 10.1371/journal.pgen.1003573

External links[edit]