Rabson-Mendenhall syndrome

Rabson-Mendenhall syndrome is a rare inherited disorder passed on in an autosomal recessive pattern and characterized by severe insulin resistance. It is caused by mutations in the insulin receptor gene. Affected people show growth abnormalities of the head, face and nails and develop acanthosis nigricans, a darkening and thickening of the skin. Treatment centres on controlling blood glucose with insulin and a carefully planned, controlled diet, and other symptoms may be addressed directly, for example with surgery for facial abnormalities. Only about 50 cases have been reported, and affected patients usually die during adolescence.