منابع مشابه
Mosaic epidermolytic ichthyosis - Case report*
Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can ...
متن کاملInfantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder. Other manifestations include palmoplantar keratoderma (PPK). EI results from mutations in the keratin 1 and keratin 10 genes. Phenotypic var...
متن کاملA novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis
Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only 4 mutations with autosomal recessive inheritance of EI have been described in consanguineous families. All...
متن کاملExtensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis.
متن کامل
Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family
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ژورنال
عنوان ژورنال: BMJ Case Reports
سال: 2021
ISSN: 1757-790X
DOI: 10.1136/bcr-2020-240424