IgA Nephropathy in a Patient with Dominant Dystrophic Epidermolysis Bullosa
نویسندگان
چکیده
منابع مشابه
A mutation-independent therapeutic strategy for dominant dystrophic epidermolysis bullosa.
Julia Spoendlin, Johannes J. Voegel, Susan S. Jick and Christoph R. Meier Basel Pharmacoepidemiology Unit, Division of Clinical Pharmacy and Epidemiology, Department of Pharmaceutical Sciences, University of Basel, Basel, Switzerland; Hospital Pharmacy, University Hospital Basel, Basel, Switzerland; Galderma Research & Development, Sophia Antipolis, France and Boston Collaborative Drug Surveill...
متن کاملDystrophic epidermolysis bullosa: a review
Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type VII collagen leads to subepidermal blistering immediately below the lamina densa, resulting in mucocutaneous fragility and disease complications such as intractable ulcers, extensive scarring, malnutrition, and mali...
متن کاملPretibial dystrophic epidermolysis bullosa*
Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. In this group, there are autosomal dominant and recessive inheritances. The pre-tibial form is characterized by...
متن کاملMaternal germline mosaicism in dominant dystrophic epidermolysis bullosa.
Peter B Cserhalmi-Friedman, Maria C Garzon, Edwin Guzman, Amalia Martinez-Mir, Wendy K Chung, Kwame Anyane-Yeboa and Angela M Christiano Department of Dermatology, New York, New York, U.S.A. Department of Genetics and Development, New York, New York, U.S.A. Department of Pediatrics, Division of Clinical Genetics, College of Physicians and Surgeons, Columbia University, New York, New York, U.S.A...
متن کاملJunctional and Dystrophic Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a congenital genodermatosis, which affects mainly skin and occasionally other organs [1]. Lifelong blistering and erosion of the skin and mucous membrane, caused by mechanical trauma, threaten EB patients [1]. The most common cause of death is metastasizing squamous cell carcinoma [2]. EB is subdivided into mainly three categories by the location of tissue separati...
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ژورنال
عنوان ژورنال: The Tohoku Journal of Experimental Medicine
سال: 2008
ISSN: 0040-8727,1349-3329
DOI: 10.1620/tjem.214.297