Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced acral blisters in infancy and childhood, photosensitivity, and progressive poikiloderma. Other clinical features include chronic erosive gingivitis, dysphagia, esophageal and urethral strictures, ectropion, and an increased risk of mucocutaneous squamous cell carcinoma. We describe a patient with Kindl...

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...

Kindler syndrome is a rare, autosomal, recessive genodermatosis characterized by trauma-induced acral blisters in infancy and childhood, photosensitivity and progressive poikiloderma. Very few cases in the literature report an association with squamous cell carcinoma, even though it is a very well-known, long-term complication. A case involving a 23-year-old woman with a history of Kindler synd...

Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affecte...

Breast Cancer (BC) has associated risk factors and genetic factors like BRCA1, and BRCA2. Many benign and malignant disease processes are found concurrently with BC and believed to be additional risk factors like gall bladder stones (cholelithiasis), hypertension, diabetes mellitus, cerebrovascular lesions, arthritis, spine and spinal cord degenerative lesions, infertility, depression, sleep di...

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...

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...

background and aim kindler syndrome is a subtype of epidermolysis bullosa with gingival fragility and periodontitis as common oral manifestations of these patients. because of the early onset and rapid progression of periodontitis in these patients, clinical management of their oral status is an important aspect of their multidisciplinary care and treatment case presentation we present a succes...