epidermolysis bullosa simplex


Also found in: Acronyms, Wikipedia.

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 ?
At the meeting, he presented his updated experience with the therapy in six patients with epidermolysis bullosa simplex and eight with pachyonychia congenita.
Talia, five, suffers from epidermolysis bullosa simplex - a rare skin condition which leaves her with painful sores and blisters.
has received the designation of Rare Disease Drug by Taiwan FDA for use of AC-203 to treat Epidermolysis Bullosa Simplex (EBS), and is eligible for applying for coverage under National Health Insurance Administration (NHIA).
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.

Full browser ?