Congenital Lipodystrophic Diabetes With Acanthosis Nigricans

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Abstract
Three living patients with congenital lipodystrophic diabetes and an autopsied infant with leprechaunism have been discussed. Acanthosis nigricans, hirsutism, and generalized lipodystrophy are dermatological features of this multisystem disorder. Other features include increased growth before puberty, enlarged genitalia, diabetes without severe ketosis, hepatomegaly and occasional splenomegaly, enlarged ventricles of the brain, sometimes mental deficiency, large hands and feet, and occasionally congenital anomalies of the heart, bones, and kidneys. The condition is probably transmitted as an autosomal recessive trait.

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