Dominant Dystrophic Epidermolysis Bullosa Pruriginosa Responding to Naltrexone Treatment
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چکیده
منابع مشابه
Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization.
Dystrophic epidermolysis bullosa (DEB) pruriginosa (DEB-Pr) is a rare variant of DEB due to COL7A1 dominant and recessive mutations, which is characterized by severe itching and lichenoid or nodular prurigo-like lesions, mainly involving the extremities. Less than 30 patients have been described showing variable disease expression, and frequently, delayed age of onset. We report the clinical an...
متن کاملA Case of Dominant Dystrophic Epidermolysis Bullosa Responding Well to an Old Medication.
Additional Contributions:We are indebted to themycological laboratory staff of Sun Yat-sen University, Sun Yat-senMemorial Hospital, including Li Yan Xi, MD, PhD; ChangMing Lu, MD; Sha Lu, MD, PhD; and Ying Hui Liu, MD, without whose invaluable assistance this study could not have been performed. These persons received no payment for their contributions beyond that received in the normal course...
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 کاملEpidermolysis bullosa pruriginosa--report of three cases.
Epidermolysis bullosa pruriginosa, a genetic mechanobullous disease, is characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and albopapuloid lesions, appearing at birth or later. Scarring and prurigo are most prominent on the shins. Treatment is unsatisfactory. We report three such cases: two of them f...
متن کاملAn Incompletely Penetrant Novel Mutation in COL7A1 Causes Epidermolysis Bullosa Pruriginosa and Dominant Dystrophic Epidermolysis Bullosa Phenotypes in an Extended Kindred
Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by intense pruritus, nodular or lichenoid lesions, and violaceous linear scarring, most prominently on the extensor extremities. Remarkably, identical mutations in COL7A1, which encodes an anchoring fibril protein present at the dermal-epidermal junction, can cause both DEB and EBP ...
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ژورنال
عنوان ژورنال: Acta Dermato Venereologica
سال: 2019
ISSN: 0001-5555
DOI: 10.2340/00015555-3304