منابع مشابه
Pretibial 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 کاملPretibial Epidermolysis Bullosa
History A 12-year-old boy presented with a history of blistering due to trauma on both shins since birth. They healed with scarring and milia formation. The lesions mainly affected the shins and some occasionally appeared on the waist. They were mildly pruritic and were worse in the summer as well as being precipitated by trauma. There was also toenail dystrophy but his hair and teeth were norm...
متن کاملPretibial Epidermolysis Bullosa: Report of two cases
Pretibial epidermolysis bullosa is a rare variant of hereditary epidermolysis bullosa characterized by the delayed onset of lesions and their localization. We present two cases, a 35-year-old woman and a 21-year-old man. They clinically had pruritus, nodular prurigo-like or lichenified lesions, violaceous scarring, milia, nail dystrophy and in one case albopapuloid lesions on the trunk. Physica...
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...
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 کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Anais Brasileiros de Dermatologia
سال: 2017
ISSN: 1806-4841,0365-0596
DOI: 10.1590/abd1806-4841.20175952