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Localized epidermolysis bullosa simplex

Disease definition

Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.

ORPHA:79400

Classification level: Disorder
  • Synonym(s):
    • EBS-loc
    • Epidermolysis bullosa simplex of palms and soles
    • Epidermolysis bullosa simplex, Weber-Cockayne type
    • Localized EBS
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q81.0
  • OMIM: 131800
  • UMLS: C0080333
  • MeSH: -
  • GARD: 2146
  • MedDRA: -

Summary

Epidemiology

Reported prevalence ranges from 1/318,000 for localized EBS in the United States to 1/35,000 for localized EBS and non-Dowling-Meara generalized EBS (combined) in Scotland. About two-thirds of EBS patients have the localized basal form.

Clinical description

Onset is usually in late infancy or early childhood. The usual distribution of blisters in these patients is on the palms and soles, although other skin surfaces may also blister if subjected to significant trauma. Milia and scarring are rare in localized EBS, and dystrophic nails are uncommon. Focal keratoderma of the palms and soles may occur by adulthood in some patients. The only common extracutaneous finding in localized EBS, i.e. localized intraoral erosions or blisters, tends to be asymptomatic, occurs in about one third of patients, and is usually seen only during infancy.

Etiology

Localized EBS is caused by dominant negative mutations within either the KRT5 (12q13.13) or KRT14 (17q12-q21) genes, encoding keratin 5 and keratin 14, respectively.

Genetic counseling

Transmission is autosomal dominant and sporadic cases are frequent.

Prognosis

Although the disease can be disabling, life-expectancy is normal.

Expert reviewer(s):  Pr Giovanna ZAMBRUNO - Last update: May 2012

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.