نتایج جستجو برای: recessive epidermolysis bullosa

تعداد نتایج: 25672  

2013
Klaas Heeres Hendri H. Pas Katsushi Owaribe Ana M. Martinez de Velasco

Introduction Generalized atrophic benign epidermolysis bullosa (GABEB) is a form of nonlethal junctional epidermolysis bullosa characterized by universal alopecia and atrophy of the skin. We report a deficiency of the 180-kD bullous pemphigoid antigen in three patients with GABEB from unrelated families. We screened specimens of clinically normal skin from nine junctional epidermolysis bullosa ...

Journal: :Pediatric blood & cancer 2010
Sejal Bavishi Kenneth Wong Thamani Delgardo Araz Marachelian Soumen Khatua

Epidermolysis bullosa simplex (EBS) is a heritable skin disorder characterized by skin fragility and blistering. While its most severe variant, dystrophic epidermolysis bullosa (DEB) is associated with squamous cell carcinoma (SCC), the development of extracutaneous neoplasms in EBS is extremely rare. We report a novel case of supratentorial primitive neuroectodermal tumor (sPNET) in a 7-year m...

Journal: :The Journal of clinical investigation 2003
Susana Ortiz-Urda Qun Lin Cheryl L Green Douglas R Keene M Peter Marinkovich Paul A Khavari

Current therapeutic strategies for genetic skin disorders rely on the complex process of grafting genetically engineered tissue to recipient wound beds. Because fibroblasts synthesize and secrete extracellular matrix, we explored their utility in recessive dystrophic epidermolysis bullosa (RDEB), a blistering disease due to defective extracellular type VII collagen. Intradermal injection of RDE...

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