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Case Reports

Abstract

Familial partial lipodystrophy (FPLD) is a heterogeneous group of inherited disorders comprised of six subtypes based on genetic alterations and phenotype. Type 2 (FPLD2, Dunnigan type) is the most prevalent subtype due to a mutation in the LMNA gene. Clinical presentation includes a loss of subcutaneous adipose tissue in the limbs, buttocks, and possibly trunk, with fat accumulation in the neck, face, and intraabdominal regions. Lipomas sometimes arise even in lipoatrophic areas, and mitochondrial lipodystrophic syndrome can involve both lipomatous masses and lipoatrophy. This case provides an opportunity to review the subject. A 62-year-old female presented with multiple subcutaneous masses and a history of partial lipodystrophy diagnosed in her 20s, hypertriglyceridemia, fatty liver disease, type 2 diabetes mellitus, and polycystic ovarian syndrome. Physical examination revealed up to 2 cm in diameter, freely movable subcutaneous masses in her left forearm, left lateral thigh, right abdomen, and right buttock. She also had lipoatrophy of her bilateral lower and upper extremities, chest wall, and breasts, while increased fat deposition in her face, chin, neck/submental area, and upper back with a hump formation. Histopathologic examination of the excised masses revealed mature adipose tissue with a focal area of hyalinized fat necrosis. Genetic testing detected a pathogenic heterozygous variant LMNA c.1445 G>A (p.R482Q), which confirmed the diagnosis of FPLD2. Despite impaired adipogenic mechanisms in lipomas arising in lipoatrophic regions, their histopathologic phenotype may be near-normal with low-grade inflammatory or focal changes. Therefore, lipodystrophy syndromes should be considered in the proper clinical setting.