Aplasia cutis congenita

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Aplasia cutis congenita
Classification and external resources
Specialty medical genetics
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][3]

It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome.[4] It can also seen with exposure to methimazole and carbimazole in utero.[5] This dermatological manifestation has been linked to Peptidase D haploinsufficiency and a deletion in Chromosome 19.[6]

Genetics[edit]

This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.[7]

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 (6 ed.). McGraw-Hill. p. 650. ISBN 0-07-138076-0. 
  3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10 ed.). Saunders. p. 572. ISBN 0-7216-2921-0. 
  4. ^ Online Mendelian Inheritance in Man (OMIM) 107600
  5. ^ Rodríguez-García C; González-Hernández S; Hernández-Martín A; Pérez-Robayna N; Sánchez R; Torrelo A (2011). "Aplasia cutis congenita and other anomalies associated with methimazole exposure during pregnancy". Pediatric Dermatology. 28 (6): 743–745. doi:10.1111/j.1525-1470.2011.01572.x. PMID 21995270. 
  6. ^ 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. 
  7. ^ Marneros AG (2013) BMS1 is mutated in Aplasia Cutis Congenita. PLoS Genet 9(6):e1003573. doi: 10.1371/journal.pgen.1003573

External links[edit]