سندرم شبه اسکلرودرمی معرفی یک بیمار نادر (سندرم ورنر)

سندرم ورنر با تظاهر اسکلرودرمی در اعضا یک خانواده

گزارش یک مورد سندرم POEMS با تظاهرات نادر بصورت هیپرتانسیون پولمونر و تظاهرات پوستی شبه اسکلرودرمی

          POEMS syndrome is a plasmocytic dyscrasia that consists a constellation    of polyneuropathy(p), organomegaly(o), endocrinopathy(e), monoclonal    gammapathy(m) and skin disorders(s).           Herein, we report a case of POEMS syndrome that was referred to  &nbsp...

معرفی یک بیمار مبتلا به سندرم مارفان

معرفی یک بیمار مبتلا به سندرم ایکتیوزلاملار

Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency. Case Report: Our patient was a 6 year old girl and she was the result of consanguinity. She had large plate-like scales. The scales had mosaic-like pattern and erythroderma was absent. Tautness of her facial skin was as...

معرفی یک بیمار مبتلا به سندرم مافوچی

Introduction: Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature) with a combination occurrence of multiple enchodroma and vascular tumors. Case Report: Our patient was an 18 year old girl born in a non-consanguineous marriage with finger and toe bones disorders (enchondroma) causing deformity of fingers and toes with multiple vas...