Epidermolysis bullosa simplex

Classification	D ICD-10: Q81.0; ICD-9-CM: 757.39; OMIM: 131900 131760 131800 131960; MeSH: D016110; DiseasesDB: 4334;
External resources	eMedicine: derm/124; Orphanet: 304;

Epidermolysis bullosa simplex
	Epidermolysis bullosa simplex
Specialty	Medical genetics

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.

Cause

Absence of keratin-5,14 since birth.

Diagnosis

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. Associated with a recurrent mutation in KRT14.[2]^:557[3][4]	12q13 (KRT5)	131960
Epidermolysis bullosa simplex, autosomal recessive	17q12-q21 (KRT14)	601001
Generalized epidermolysis bullosa simplex Also known as "Koebner variant of generalized epidermolysis bullosa simplex", presents at birth to early infancy with a predilection for the hands, feet, and extremities, and palmar-plantar hyperkeratosis and erosions may be present.[1]^:598[2]^:556	17q12-q21 (KRT5), 12q13 (KRT14)	131900
Localized epidermolysis bullosa simplex Also known as "Weber–Cockayne syndrome",[4]^:460 and "Weber–Cockayne variant of generalized epidermolysis bullosa simplex", is characterized by onset in childhood or later in life, and is the most common variant of epidermolysis bullosa simplex.[1]^:598[2]^:557	17q12-q21 (KRT5), 17q11-qter, 12q13 (KRT14)	131800
Epidermolysis bullosa herpetiformis Also known as "Dowling-Meara epidermolysis bullosa simplex", presents at birth with a generalized distribution, often with oral mucosa involvement and variable lesions in infancy.[1]^:598[2]^:557	17q12-q21 (KRT5), 12q13 (KRT14)	131760
Epidermolysis bullosa simplex with muscular dystrophy A rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized epidermolysis bullosa simplex, but also associated with adult onset muscular dystrophy.[1]^:598[2]^:557[4]	8q24 (PLEC1)	226670
Epidermolysis bullosa simplex with pyloric atresia	8q24 (PLEC1)	612138
Epidermolysis bullosa simplex of Ogna Has onset in infancy, presenting with seasonal blistering on acral areas during summer months.[1]^:598[2]^:557[4]	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

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References

Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
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.

External links

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[FITZPATRICKS2003-1] Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

[ANDREWS2005-2] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

[EBSMP-3] 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.

[BOLOGNIA2007-4] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.