Aplasia cutis congenita
| Aplasia cutis congenita | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | Q84.8 (ILDS Q84.810) |
| OMIM | 107600 |
| DiseasesDB | 32731 |
| eMedicine | article/1110134 |
| Patient UK | Aplasia cutis congenita |
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]
Contents
Genetics
This condition has been linked to mutations in the ribosomal GTPase BMS1 gene.[7]
See also
References
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- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 107600
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- ↑ Marneros AG (2013) BMS1 is mutated in Aplasia Cutis Congenita. PLoS Genet 9(6):e1003573. doi: 10.1371/journal.pgen.1003573
