PP69. A CASE OF KINDLER SYNDROME WITH PRIMARY INFERTILITY
BURAK DURMAZ1, Ozgur Cogulu1, Tugrul Dereli2, Cihangir Ozkinay3, Ferda Ozkinay1 1. Department of Pediatrics, Subdivision of Genetics and Teratology, Ege University, Faculty of Medicine, Izmir, Turkey 2. Department of Dermatology, Ege University, Faculty of Medicine, Izmir, Turkey 3. Department of Medical Genetics, Ege University, Faculty of Medicine, Izmir, Turkey e-mail: burakdurmaz@hotmail.com
*Corresponding Author:
page: 78

Abstract

Kindler syndrome (KS) is a rare autosomal recessive disorder characterized by acral blisters in infancy, followed by progressive poikiloderma, photosensitivity and skin fragility. Other features include palmoplantar hyperkeratosis and skin wrinkling, telangiectases, periodontal diseases, digital webbing and nail dystrophy. Here we report a 27 year-old female who was referred to our department for diffuse skin lesions. She was born at term to consanguineous parents by spontaneous delivery. Acral blisters were first noticed in the neonatal period. On her physical examination, she had telangiectases on the face associated with diffuse hyper- and hypo-pigmented lesions all over the body. Cutaneous examination revealed generalized poikiloderma, dry, atrophic, hyperkeratotic skin lesions especially over the dorsal side of the hands and feet. She also had a history of photosensitivity that slightly improved in adulthood. Histopathological examination of the skin showed focal epidermal atrophy, pigmentary incontinence suggested poikiloderma. She also suffered from poor dentition and prone to bleeding gums. Additionally, she was infertile and the ultrasonography showed a hypoplastic uterus. Hysterosalpingography revealed no pathology of the fallopian tubes. The patient was considered to be a case of Kindler sy ndrome with an additional finding of primary infertility.




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