Acanthosis nigricans-muscle cramps-acral enlargement syndrome, also known as Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome is an extremely rare
genetic disorder which is characterized by the appearance of
acanthosis nigricans,
insulin resistance
Insulin resistance (IR) is a pathological condition in which cell (biology), cells fail to respond normally to the hormone insulin.
Insulin is a hormone that facilitates the transport of glucose from blood into cells, thereby reducing blood gluco ...
, muscle cramps of severe intensity, and acral
hypertrophy/enlargement. Only 2 cases have been reported in medical literature.
It was first discovered when
Jeffrey Flier
Jeffrey Flier is an American physician, endocrinologist, widely cited scientist, ''Higginson Professor of Medicine and Physiology, and Harvard University Distinguished Service Professor'' at Harvard Medical School. He was the 21st Dean of the Facu ...
and his colleagues described two siblings of the opposite sex with the symptoms mentioned above. (plus: large, chunky hands), the sister had virilized polycystic ovaries. After being treated with dilantin, the cramps' severity lowered and the brother's insulin resistance also lowered. The inheritance pattern of this disorder is thought to be autosomal recessive.
References
External links
Autosomal recessive disorders
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