Epidermolysis bullosa simplex with muscular dystrophy

Epidermolysis bullosa simplex
Classification and external resources
10 9 OMIM DiseasesDB eMedicine 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.


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.[5]: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.[5]: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.[5]: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.[5]: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.[5]:598[2]:557[4]
8q24 (PLEC1) 131950

See also


External links

  • GeneReviews/NCBI/UW/NIH entry on Epidermolysis Bullosa Simplex

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