Novel KIND1 Gene Mutation in Kindler Syndrome With Severe Gastrointestinal Tract Involvement
نویسندگان
چکیده
منابع مشابه
Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.
BACKGROUND Kindler syndrome (online Mendelian Inheritance in Man No. 173650) is an autosomal recessive genodermatosis characterized by acral trauma-induced blistering that improves with age and by progressive poikiloderma in later life. Other clinical features include photosensitivity, webbing of the fingers and toes, nail dystrophy, periodontal disease, and mucosal alterations. Aside from esop...
متن کاملA Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome.
BACKGROUND Kindler syndrome (KS) is an autosomal recessive skin disease characterized by actual blistering, photosensitivity and a progressive poikiloderma. The disorder results from rare mutations in the KIND1 gene. This gene contains 15 exons and expresses two kindlin-1 isoforms. OBJECTIVE The aim of this investigation was to analyze mutations in the exons 1 to 15 of KIND1 gene in an Irania...
متن کاملSporadic Kindler Syndrome with a novel mutation*
We report the case of a 28-year-old woman with Kindler syndrome, a rare form of epidermolysis bullosa. Clinically, since childhood, she had widespread pigmentary changes in her skin as well as photosensitivity and fragility of the skin and mucous membranes. The mucosal involvement led to an erosive stomatitis as well as esophageal, anal and vaginal stenoses, requiring surgical intervention. The...
متن کاملGastrointestinal Manifestation of Kindler Syndrome
1. Kindler T. congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954; 66: 104-11. 2. Yazdanfar A, Hashemi B. Kindler syndrome: report of three cases in a family and a brief review. Int J Dermatol 2009; 48:145-52. 3. Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH, et al. Kindler syndrome in Native Americans from Panama: report...
متن کاملIdentification of a Novel Mutation in CNNM4 Gene in an Iranian Family with Jalili Syndrome
Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
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ژورنال
عنوان ژورنال: Archives of Dermatology
سال: 2006
ISSN: 0003-987X
DOI: 10.1001/archderm.142.12.1619