Congenital pyloric atresia and epidermolysis bullosa.
نویسندگان
چکیده
منابع مشابه
Epidermolysis Bullosa associated with pyloric stenosis: A case report
Epidermolysis bullosa are a group of hereditary skin diseases manifested as blisters on the sites of trauma to the skin. According to the level of blister development, epidermolysis bullosa are divided into the following groups: epidermolysis bullosa simplex, junctional epidermolysis bullosa and dystrophic epidermolysis bullosa. The latter two groups are associated with poorer prognosis and hig...
متن کاملLarge Gastric Perforation in Carmi Syndrome: A Morbid Complication in a Rare Association
The association between epidermolysis bullosa (EB) and congenital pyloric atresia (CPA) named Carmi Syndrome is rare. We report unusual and morbid complication of gastric perforation resulting in peritonitis in a preterm neonate born with Carmi Syndrome.
متن کاملCase of Epidermolysis Bullosa with Pyloric Atresia
Epidermolysis bullosa (EB) is a rare hereditary disorder characterized by formation of blisters following minor trauma. It has been traditionally categorized by the level of basement membrane zone separation into EB simplex (EBS), junctional EB (JEB), and dystrophic EB (DEB). Recently, hemidesmosomal EB has been proposed as a fourth category, which includes EB with muscular dystrophy and EB wit...
متن کاملPlectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex
Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Mutations in the gene encoding plectin (PLEC) cause two distinct autosomal recessive subtypes of epidermolysis bullosa: EB simplex (EBS) with muscular dystrophy (EBS-MD), and EBS with pyloric atresia (EBS-PA). Previous studies have demonstrated that loss of full-length plectin with resi...
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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...
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ورودعنوان ژورنال:
- JPMA. The Journal of the Pakistan Medical Association
دوره 41 10 شماره
صفحات -
تاریخ انتشار 1991