The Role of Genetic Testing in Hereditary Poikiloderma: A Case Report
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چکیده
منابع مشابه
Report of a Case Report of Kindler Syndrome
A 13 years old boy with progressive poikiloderma, bullous lesions in the extremities and photosensitivity is reported. Physical examinations were otherwise normal, his physical development was normal, no other family member had a similar disease. Routin laboratory exams were in the normal limits.Histopathology exams from poikilodermatous skin showed atrophy of the epidermis, liquification degen...
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Sulphur Mustard is a potent chemical warfare agent that was widely used during first world war and Iran Iraq conflict. Over 100,000 Iranians were injured by sulphur mustard and one-third is of them were suffering from late effects until today. This vesicant agent has a lot of acute and chronic destructive effects on the skin, eye and respiratory system. Sulphur mustard via the alkylations of s...
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IPMN: intraductal papillary mucinous neoplasm POIKTMP: hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis RTS: Rothmund-Thomson syndrome H ereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP [MIM#615704]) is an extremely rare syndromic form of autosomal dominant poikiloderma. This genetic disorder was fir...
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Kindler syndrome is a rare hereditary disorder, associated with skin fragility. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 16-year-old patient with classical features like blistering and photosensitivity in childhood and the subsequent development of poikiloderma.
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Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
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