Figure 1.

Photographs of family members homozygous for the leptin receptor (LEPR) mutation; (A and B) This 45-year-old male patient exhibits a exuberant abdominal fat apron and extensive lesions of acanthosis nigricans in the neck and axillary regions. There is evidence of lower extremity deformations associated with severe obesity as bilateral genu valgum and heavy pigmentation of the legs due to obesity-associated chronic venous insufficiency; (C and D) Phenotype of a 44-year-old female homozygous patient. As her older brother, she also presented a predominant abdominal obesity. The deformation in abdominal midline is due to a scar of a gastrointestinal by-pass surgery.