Version July 2025
CANDLE: chronic atypical neutrophilic dermatosis; FPLD: familial partial lipodystrophy; HIV: human immunodeficiency virus; JMP: joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy; MAD: mandibuloacral dysplasia; MASH: metabolic dysfunction-associated steatohepatitis; MASLD: metabolic dysfunction-associated steatotic liver disease; MDP: Mandibular hypoplasia, deafness, and progeroid features syndrome.
* These very rare syndromes can be identified based on their respective, lipodystrophy-associated features. MAD and MDP are both associated with progeroid facial features (eg, micrognathia; prominent eyes; thin, beaked nose), and MDP is also associated with deafness. The autoinflammatory syndromes are associated with recurrent fevers, anemia, and hepatosplenomegaly.
¶ Both familial and acquired partial lipodystrophy may develop during childhood, adolescence, or adulthood, so timing of onset alone cannot distinguish between the two.
Δ FPLD has at least 6 subtypes, the most common of which are types 1, 2, and 3. Definitive diagnosis can be made through genetic testing but does not usually affect management. However, not all pathogenic variants have been identified for partial lipodystrophies, so negative genetic testing cannot exclude the presence of a specific FPLD subtype.
◊ The differential diagnosis for Kobberling partial lipodystrophy includes Cushing syndrome and other forms of severe, insulin-resistant diabetes, particularly in association with a central pattern of adipose tissue deposition (ie, truncal obesity). If the diagnosis remains equivocal based on history and examination, imaging with dual energy x-ray absorptiometry or magnetic resonance imaging can quantitatively establish the distribution of adipose tissue.
§ FPLD type 2 and type 3 can be difficult to differentiate clinically. FPLD type 2 is associated with fat loss from the extremities, abdomen, and thorax and excess subcutaneous fat in the chin and supraclavicular area. True muscle hypertrophy is usually present. In FPLD type 3, fat deposition in the head and neck may appear normal.
¥ Barraquer-Simons syndrome is an acquired partial lipodystrophy syndrome that is usually associated with autoimmune disorders and aberrant complement activation. It is more common in females, and fat loss is evident in the face and upper trunk, with sparing of the lower body.