Epidermolysis bullosa simplex
Epidermolysis bullosa simplex | |
---|---|
Epidermolysis bullosa simplex | |
Classification and external resources | |
Specialty | medical genetics |
ICD-10 | Q81.0 |
ICD-9-CM | 757.39 |
OMIM | 131900 131760 131800 131960 |
DiseasesDB | 4334 |
eMedicine | derm/124 |
MeSH | D016110 |
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.[1]:598
Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.
Classification
Epidermolysis bullosa simplex may be divided into multiple types:
Type | Locus & Gene | OMIM |
---|---|---|
Epidermolysis bullosa simplex with migratory circinate erythema | 12q13 (KRT5) | 609352 |
Epidermolysis bullosa simplex with mottled pigmentation. | 12q13 (KRT5) | 131960 |
Epidermolysis bullosa simplex, autosomal recessive | 17q12-q21 (KRT14) | 601001 |
Generalized epidermolysis bullosa simplex | 17q12-q21 (KRT5), 12q13 (KRT14) | 131900 |
Localized epidermolysis bullosa simplex | 17q12-q21 (KRT5), 17q11-qter, 12q13 (KRT14) | 131800 |
Epidermolysis bullosa herpetiformis | 17q12-q21 (KRT5), 12q13 (KRT14) | 131760 |
Epidermolysis bullosa simplex with muscular dystrophy
|
8q24 (PLEC1) | 226670 |
Epidermolysis bullosa simplex with pyloric atresia | 8q24 (PLEC1) | 612138 |
Epidermolysis bullosa simplex of Ogna | 8q24 (PLEC1) | 131950 |
- Epidermolysis bullosa simplex
See also
References
- 1 2 3 4 5 6 Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- 1 2 3 4 5 6 James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Harel, A, et al. "Epidermolysis Bullosa Simplex with Mottled Pigmentation Resulting from a Recurrent Mutation in KRT14." Journal of Investigative Dermatology. (2006) 126, 1654–1657. doi:10.1038/sj.jid.5700296; published online 6 April 2006.
- 1 2 3 4 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
External links
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