epidermolysis bullosa simplex


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ep·i·der·mol·y·sis bul·lo·sa sim·plex

[MIM*131900]
epidermolysis bullosa in which lesions heal rapidly without scarring; bulla formation is intraepidermal and microscopy reveals basal cell vacuolation and dissolution of tonofibrils; occurs most frequently on the feet of adults after unaccustomed trauma such as long marches; autosomal dominant inheritance caused by mutation in the keratin-5 gene (KRT5) on chromosome 12q or in the keratin-14 gene (KRT14) on 17q.
Synonym(s): epidermolysis bullosa, epidermal type

ep·i·der·mol·y·sis bul·lo·sa sim·plex

(epi-dĕr-moli-sis bu-lōsă simpleks) [MIM*131900]
Disorder in which lesions heal rapidly without scarring; bulla formation is intraepidermal and microscopy reveals basal cell vacuolation and dissolution of tonofibrils.
References in periodicals archive ?
Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex REFERENCES: phenotypes.
Trumpet nail deformity during the course of DowlingMeara type epidermolysis bullosa simplex.
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in Epidermolysis Bullosa Simplex.
Seven of the eight patients with pachyonychia congenita and five of six with epidermolysis bullosa simplex rated their condition as either "very much" or "a lot" improved after treatment.
The inherited disorder epidermolysis bullosa simplex (EBS) causes the skin to become fragile and prone to breakage and eruptions of fluid-filled blisters.
Now sulforaphane may be able to be used to treat a genetic skin blistering disorder called epidermolysis bullosa simplex (EBS).
This concept is supported by recent reports demonstrating defective expression of plectin in epidermolysis bullosa simplex (EBS)-Ogna, an autosomal dominant disease that produces severe skin blistering (Koss-Harnes et al.
Thus the diagnosis of Bart's syndrome with epidermolysis bullosa simplex was made.
Even just walking can cause Ella immense suffering as she lives with Epidermolysis Bullosa Simplex - severe blistering to the hands and feet.
Epidermolysis bullosa simplex (EBS), which causes the skin to become fragile and prone to eruptions of fluid-filled sores, affects one in 30,000 children lacking proteins keratin 5 and 14.
Even catching a ball or walking can cause Ewan immense pain as he suffers from Epidermolysis Bullosa Simplex - severe blistering to the hands and feet.

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