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Epidermolysis bullosa simplex

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Epidermolysis bullosa simplex
Epidermolysis bullosa simplex
SpecialtyMedical genetics Edit this on Wikidata

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]

Cause

Diagnosis

Classification

Epidermolysis bullosa simplex may be divided into multiple types:

Type Locus & Gene OMIM
Epidermolysis bullosa simplex with migratory circinate erythema 12q13 (KRT5) Template:OMIM2
Epidermolysis bullosa simplex with mottled pigmentation.
Associated with a recurrent mutation in KRT14.[2]: 557 [3][4]
 12q13 (KRT5) Template:OMIM2
Epidermolysis bullosa simplex, autosomal recessive 17q12-q21 (KRT14) Template:OMIM2
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) Template:OMIM2
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) Template:OMIM2
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) Template:OMIM2
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) Template:OMIM2
Epidermolysis bullosa simplex with pyloric atresia 8q24 (PLEC1) Template:OMIM2
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) Template:OMIM2

Management

  • no cure for EB
  • treat symptomatic
  • protect skin, stop blisters formation, promote healing
  • prevents complications
  • Necessary treatment: use oral & topical steroid for healing & prevent complication
  • maintain cool environment, avoid overheating & decreases friction

See also

References

  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.

Further reading

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External links

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