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 ?
Epidermolysis bullosa simplex (EBS) is a group of disorders characterized by intraepidermal blister formation occurring spontaneously or after minimal trauma, typically at birth or shortly thereafter.
et Al.--Trumpet nail deformity during the course of DowlingMeara type epidermolysis bullosa simplex. A report of two cases.
Talia, five, suffers from epidermolysis bullosa simplex - a rare skin condition which leaves her with painful sores and blisters.
At the meeting, he presented his updated experience with the therapy in six patients with epidermolysis bullosa simplex and eight with pachyonychia congenita.
Ella Jenkins has Epidermolysis Bullosa Simplex - which causes severe blistering to her hands and feet and can cause walking to be difficult.
The inherited disorder epidermolysis bullosa simplex causes the skin to become fragile and prone to breakage and eruptions of fluid-filled blisters when rubbed.
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).
Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.
In conjunction, the safety and efficacy of CCP-020 is currently being evaluated in the DELIVERS study for the treatment of patients with epidermolysis bullosa simplex (EBS), a subtype of EB, a rare genetic condition that leads to extremely fragile skin resulting in mild to severe blistering, skin erosion and peeling of the epidermis layers in response to minor injury.
Thus the diagnosis of Bart's syndrome with epidermolysis bullosa simplex was made.

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