(A) Molecular and clinical investigations of patients with heterozygous PLIN1 null variants. Arrows indicate index cases. Genealogical trees show a cosegregation of PLIN1 variants with the disease phenotype. The nomenclature of PLIN1 variants is based on the RefSeq accession numbers NM_002666.5 and NP_002657.3. (B) Morphotype of patient E-II2 with partial lipodystrophy and acromegaloid features. Subcutaneous lipoatrophy of the upper and lower limbs can be observed, with muscle hypertrophy (arrows). Compared with patients with FPLD type 2 (LMNA-linked FPLD), the neck is less broad, and the breast and subcutaneous abdominal fat are not affected by lipoatrophy. The acromegaloid features include face infiltration, a slightly enlarged nose, deep wrinkles, thick lips and hands, and enlarged feet.