Fig. 1. Phenotypes of Congenital generalized lipodystrophy and familial partial lipodystrophy of the Dunnigan variety.
A. and B. Front and lateral views of a 19-year-old female of African-American origin with congenital generalized lipodystrophy, type 1 due to 1-acylglycerol-3-phosphate acyltransferase 2 (AGPAT2) homozygous mutation. She has generalized lack of body fat, marked muscularity, acanthosis nigricans in the neck and axillae and acromegaloid features and umbilical prominence. She developed diabetes at the age of 14 years and severe hypertriglyceridemia was noted 15 years of age.
C and D. Front and lateral views of a 24-year-old Hispanic woman with familial partial lipodystrophy of the Dunnigan variety due to heterozygous missense mutation in the Lamin A/C (LMNA) gene. She had fat loss the upper and lower extremities and trunk at puberty and also accumulated excess fat in the face, submental, supraclavicular and vulvar regions. She had mild acanthosis nigricans in the neck and axillae.