Sporadic Kindler Syndrome with a novel mutation*
نویسندگان
چکیده
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 diagnosis of Kindler syndrome was confirmed by DNA sequencing with compound heterozygosity for a nonsense/frameshift combination of mutations (p.Arg110X; p.Ala289GlyfsX7) in the FERMT1 gene.
منابع مشابه
سندرم Kindler و ارتباط آن با اپیدرمولیز بولوز سیمپلکس: گزارش سه مورد از بیمارستان رازی
Kindler syndrome is characterized by acral blister formation in infancy and childhood, poikiloderma and cutaneous atrophy. Undoubtedly, similarities of the clinical features exist between Kindler syndrome and Epidermolysis bullosa simplex with mottled pigmentation. In this article, we report 3 patients with Kindler syndrome. Until the Bullous component of Kindler syndrome is more completely und...
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 کاملKindler Syndrome: 2 Case Reports from India
Kindler syndrome (KS) is a rare autosomal recessive genodermatosis. We report two cases of KS with classical clinical presentations involving skin and mucus membranes. Clinically, both patients had four major features of KS in the form of acral skin blistering, photosensitivity, progressive poikiloderma, and diffuse cutaneous atrophy. Case 1 had associated features in the form of urethral...
متن کاملIdentification of a Novel CLCNKB Mutation in an Iranian Family with Bartter Syndrome Type 3.
Bartter syndrome (BS) is a group of uncommon genetic disorders of reabsorption of salt in the cortical thick ascending limb (TAL) of the Henle's loop, typically distinguished by metabolic alkalosis, salt loss, hypokalemia, hyperreninemic hyperaldosteronism and normal blood pressure. Bartter syndrome type 3, recognized as a classic BS (CBS), occurs because of mutations in CLCNKB gene. We enroll...
متن کاملReport 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...
متن کامل