Inheritance: usually autosomal dominant, rarely autosomal recessive
Clinical features:
(1) normal fat distribution during infancy and early childhood
(2) loss of subcutaneous fat in arms and legs starting around puberty (adolescence)
(3) variable loss of subcutaneous fat of chest and trunk
(4) variable Cushingoid appearance due to fat accumulation in the face, neck and within the abdomen
(5) diabetes
(6) variable hepatomegaly from hepatosteatosis
(7) variable acanthosis nigricans
(8) variable myopathy and/or cardiomyopathy
(9) variable pancreatitis (with hypertriglyceridemia)
(10) variable hirsutism and hyperandrogenism in women
(11) variable hyperphagia
In men the diagnosis may be delayed or missed because the loss of fat makes a person look more muscular.
Laboratory findings:
(1) severe hypertriglyceridemia
(2) hyperglycemia
