Phenotypic discordance between siblings with junctional epidermolysis bullosa–pyloric atresia
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia.
Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia was carried out in a couple at risk. Their two previous children had died during the first months of life of the same disorder despite surgery for the pyloric abnormality. Ultrastructural study of fetal skin biopsies obtained at 18 weeks' gestation showed dermal-epidermal separation at the lamina lucida level...
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PARK2 mutations are the most common cause of early-onset Parkinson's disease. No genotype-phenotype correlation exists, and phenotypic variability is quite common. We report two siblings with confirmed identical compound heterozygous mutations in the PARK2 gene manifesting strikingly different phenotypes. The older brother demonstrated marked parkinsonism by his mid-20's, whereas the younger br...
متن کاملMolecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
BACKGROUND Junctional epidermolysis bullosa (JEB), a group of hereditary skin fragility disorders, is associated with a wide variety of phenotypes, although all forms are characterised by trauma induced skin blistering and tissue separation at the dermal-epidermal junction zone. A subgroup, coined JEB-other, is associated with mutations in the COL17A1 gene encoding collagen XVII or, more rarely...
متن کاملHomozygous alpha6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia.
Junctional epidermolysis bullosa with congenital pyloric or duodenal atresia is a distinct variant within this group of autosomal recessive blistering skin diseases. In this study we demonstrate, for the first time, a homozygous mutation in the alpha6 integrin gene (ITGA6) in a family with three affected individuals. For this purpose, we first determined the genomic organization of ITGA6, and p...
متن کاملJunctional epidermolysis bullosa.
Epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterized by fragility and blistering of the skin, often associated with extracutaneous manifestations. The level of vesiculation within the skin defines 3 major subtypes of EB: EB simplex, junctional EB, and dystrophic EB. We present the case of a male neonate of 36 weeks of gestation, who was born with a few b...
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ژورنال
عنوان ژورنال: Clinical and Experimental Dermatology
سال: 2020
ISSN: 0307-6938,1365-2230
DOI: 10.1111/ced.14223