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.
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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.
Response to phenytoin therapy in Epidermolysis Bullosa simplex
Plectin deficiency leads to both muscular dystrophy and pyloric atresia in Epidermolysis Bullosa Simplex.
Epidermolisis ampollosa en un recien nacido, reporte de un caso
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.
Botulinum eased plantar keratinopathy pain
The inherited disorder epidermolysis bullosa simplex (EBS) causes the skin to become fragile and prone to breakage and eruptions of fluid-filled blisters.
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Now sulforaphane may be able to be used to treat a genetic skin blistering disorder called epidermolysis bullosa simplex (EBS).
Natural chemical combats skin blistering disorder
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.
Domain structure and transcript diversity of plectin
Thus the diagnosis of Bart's syndrome with epidermolysis bullosa simplex was made.
Congenital localised absence of skin (Bart's syndrome) rare case report
Even just walking can cause Ella immense suffering as she lives with Epidermolysis Bullosa Simplex - severe blistering to the hands and feet.
Smile that hides pain; FEISTY ELLA REFUSES TO LET AGONISING SKIN CONDITION GET HER DOWN
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.
Broccoli boost in skin fight
One woman who hopes the book will help her family is Gillian Jenkins who suffers with Epidermolysis Bullosa Simplex along with her two-year-old son Ewan.
Health: Jonny's brave fight to help fellow sufferers; In association with the NHS This month the inspirational thoughts of Jonny Kennedy are to be published in a book to helps others afflicted by the rare skin condition that took his life. HELEN RAE looks at how North East people with Epidermolysis Bullosa cope with day-to-day task
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.
Smile of valour; Words of hope could help others

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