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Epidermolysis bullosa simplex

Updated: 2017-06-08T08:12Z
Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
Classification and external resources
OMIM131900 131760 131800 131960
Patient UKEpidermolysis bullosa simplex
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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.[citation needed]


Epidermolysis bullosa simplex may be divided into multiple types:

TypeLocus & GeneOMIM
Epidermolysis bullosa simplex with migratory circinate erythema12q13 (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 recessive17q12-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 atresia8q24 (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

See also


  1. ^ a b c d e f Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ^ a b c d e f James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  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. [1]
  4. ^ a b c d 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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