Bart Syndrome; Aplasia cutis and dystrophic epidermolysis bullosa
نویسندگان
چکیده
منابع مشابه
Pyloric atresia epidermolysis bullosa aplasia cutis syndrome: a case report and literature review
The association between epidermolysis bullosa and congenital pyloric atresia is rare, but is a known distinct clinical entity with autosomal recessive inheritance. We report on a case of a baby girl born by cesarean section at 37 weeks’ gestation to a G7 P7 mother and weighed 2.84 kg. At birth, there was denuded skin over the right leg from the knee joint up to the middle of the right foot. Abd...
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 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 کاملA Case of Aplasia Cutis Congenita Type VI: Bart Syndrome
Aplasia cutis congenita type VI, also known as Bart syndrome, is a rare genetic mechanobullous disorder characterized by congenital localized absence of skin, mucocutaneous blistering lesions, and nail abnormalities. We present the case of a 4-h-old male newborn who presented with complete absence of skin over the anteromedial aspect of both lower legs associated with nail dystrophy since birth...
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...
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ژورنال
عنوان ژورنال: The Journal of Tepecik Education and Research Hospital
سال: 2016
ISSN: 1305-7073
DOI: 10.5222/terh.2016.069