case report of congenital insensitivity to pain and anhidrosis

Congenital insensitivity to pain with anhidrosis [CIPA] is a rare disorder characterized by episodes of fever and pain insensitivity despite the fact that all other sensory modalities remain intact or minimally impaired. Other clinical features are self-mutilated behaviour, mental retardation and anhydrosis. We present a case first time from Pakistan, 9- and 4-year-old brother and sister respectively, diagnosed as CIPA clinically with the above-mentioned clinical characteristics.

young girl with progressive symmetrical erythrokeratoderma and short height

Progressive symmetrical erythrokeratoderma is an uncommon genodermatosis and is thought to arise due to mutations in the connexin gene. However, genetic heterogeneity has been described. We report a case of progressive symmetrical erythrokeratoderma, with short height