Dunnigan-type Familial Partial Lipodystrophy in a North Indian Kindred

A BSTRACT Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disorder caused by mutations in the lamin A/C (LMNA) gene and is characterized by partial atrophy and ectopic deposition of adipose tissue in variable sites, and metabolic abnormalities including insulin resistance, diabetes, dyslipidemia, pancreatitis, cardiac abnormalities, and polycystic ovarian syndrome. An 11-year-old girl presented with lipodystrophic manifestations that began during childhood along with skin changes of papillomatosis and guttate hypomelanosis. Genetic testing revealed a heterozygous missense mutation in exon 1 of the LMNA gene; c.29C>T (p.Thr10Ile). The disease progressed to type 2 diabetes, dyslipidemia, and hepatic steatosis. In addition, she developed severe osteoporosis which has not been reported before in FPLD2. Her younger sisters have similar manifestations but her brother and parents are asymptomatic. She is currently receiving insulin (9.5 units/kg/day), lipid-lowering drugs, and bisphosphonates. In conclusion, we report an atypical manifestation of osteoporosis in FPLD2 along with other usual classical clinical features.