نتایج جستجو برای: recessive epidermolysis bullosa
تعداد نتایج: 25672 فیلتر نتایج به سال:
Recessive dystrophic epidermolysis bullosa (RDEB) manifests with blistering and erosions of the skin mucous membranes due to mutations in COL7A1. The repetitive wounding healing processes lead extensive cutaneous scarring. scarring is driven by inflammatory processes, particularly TGF-b signaling pathways, resulting deposition extracellular matrix, especially collagen. There currently no effect...
We report a 20-year-old female with generalized, severe, recessive dystrophic epidermolysis bullosa who developed secondary chronic anal fissures. This resulted in anal sphincter spasm and severe, disabling pain. She was treated with five botulinum toxin A injections into the internal anal sphincter over a period of 2 years and gained marked improvement in her symptoms. This case demonstrates t...
There are previous reports of dilated cardiomyopathy (DCM) in recessive dystrophic epidermolysis bullosa (RDEB), a debilitating blistering skin disorder. The pathogenesis of DCM in RDEB remains uncertain, although dietary deficiency of selenium and carnitine have been implicated. A 6 year old girl with RDEB who died of DCM is reported; attention is drawn to the possible role of two potentially ...
BACKGROUND Patients with recessive dystrophic epidermolysis bullosa (RDEB) have deficiencies of collagen type VII and have elevated levels of fibroblast collagenase, and a greatly increased risk of cutaneous squamous cell carcinoma. Patients with other genetic blistering disorders do not have elevated collagenase or an increased risk of squamous cell carcinoma, despite chronic wounding. The con...
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