Epidermolysis bullosa simplex
Epidermolysis bullosa simplex (EBS), is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.[1]:598[2]
Epidermolysis bullosa simplex | |
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Epidermolysis bullosa simplex | |
Specialty | Medical genetics |
Blister formation of EBS occurs at the dermoepidermal junction. Sometimes EBS is called epidermolytic.
Cause
Absence of keratin-5,14 since birth.
Diagnosis
Classification
Epidermolysis bullosa simplex may be divided into multiple types:
Type | Locus & Gene | OMIM |
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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
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8q24 (PLEC1) | 226670 |
Epidermolysis bullosa simplex with pyloric atresia | 8q24 (PLEC1) | 612138 |
Epidermolysis bullosa simplex of Ogna | 8q24 (PLEC1) | 131950 |
Management
- No cure for EB
- Treat symptoms
- Protect skin, stop blister formation, promote healing
- Prevent complications
- Necessary treatment: use oral and topical steroid for healing and prevent complication
- Maintain cool environment, avoid overheating and decreases friction
References
- Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- Bardhan, Ajoy; Bruckner-Tuderman, Leena; Chapple, Iain L. C.; Fine, Jo-David; Harper, Natasha; Has, Cristina; Magin, Thomas M.; Marinkovich, M. Peter; Marshall, John F.; McGrath, John A.; Mellerio, Jemima E. (2020-09-24). "Epidermolysis bullosa". Nature Reviews Disease Primers. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN 2056-676X. PMID 32973163. S2CID 221861310.
- 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.
- Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
Further reading
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External links
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External resources |
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