Epidermolysis bullosa simplex, localized
Alternate names[edit | edit source]
EBS-loc; Weber-Cockayne type epidermolysis bullosa simplex; Epidermolysis bullosa simplex, Weber-Cockayne type; Epidermolysis bullosa simplex of palms and soles; Epidermolysis bullosa of hands and feet; Weber-Cockayne syndrome
Definition[edit | edit source]
Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.
Epidemiology[edit | edit source]
- 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.
Cause[edit | edit source]
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.
Inheritance[edit | edit source]
Transmission is autosomal dominant and sporadic cases are frequent.
Onset[edit | edit source]
Onset is usually in late infancy or early childhood.
Signs and symptoms[edit | edit source]
- 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.
Diagnosis[edit | edit source]
The diagnosis of epidermolysis bullosa simplex (EBS) is established in a proband by the identification of heterozygous (or rarely biallelic) pathogenic variants in KRT5 or KRT14 by molecular genetic testing; examination of a skin biopsy using immunofluorescence microscopy and transmission electron microscopy may be considered but can have limitations in the diagnosis of EBS.[1][1].
Treatment[edit | edit source]
- Supportive care to protect the skin from blistering
- Use of dressings that will not further damage the skin and will promote healing of open wounds.
- Lance and drain new blisters.
- Dressings involve three layers: a primary nonadherent contact layer
- A secondary layer providing stability, adding padding, and absorbing drainage; and a tertiary layer with elastic properties.[2][2].
References[edit | edit source]
- ↑ Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. 1998 Oct 7 [Updated 2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1369/
- ↑ Pfendner EG, Bruckner AL. Epidermolysis Bullosa Simplex. 1998 Oct 7 [Updated 2016 Oct 13]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1369/
NIH genetic and rare disease info[edit source]
Epidermolysis bullosa simplex, localized is a rare disease.
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