A rare case of acquired partial lipodystrophy (Barraquer-Simons syndrome) with localized scleroderma

Abstract

IntroductionLipodystrophy is a group of adipose tissue disorders classi-fied into genetic/acquired or generalized/partial lack ofadipose tissue (lipoatrophy). Acquired partial lipodystro-phy (APL) or Barraquer–Simons syndrome presents withlate onset symmetrical loss of fat from the face, neck,arms, and trunk with spared or increased adiposity in thelower body. The pathogenesis of APL is unknown. Wereport a rare case of a combination of APL and localizedscleroderma whose genetic study showed three heterozy-gous non-coding nucleotide changes in the LMNB2 gene.Case reportA 52-year-old woman, at the age of 24, had painlesserythematous patches on both of her cheeks, which grad-ually, over years, expanded and later subsided withlipoatrophy. She had never used drugs that could causelipodystrophy or scleroderma. Four years previously, asimilar lesion had developed and left lipoatrophy on bothproximal arms. No one in her family has the samecondition.Physical examination of her facial contour after recon-structive surgeries revealed bilateral loss of buccal fat pads,prominent zygomatic arches and chin (Fig. 1 left), partialloss of fat on both proximal arms (Fig. 1 right), andsclerotic plaques on the upper and lower back (Fig. 2).The investigations, including complete blood count, U/A,liver function test, BUN, Cr, C3, C4, HIV, antinuclearantibodies, anti-ds DNA, anti-Sm, and anti-SCL70, werenormal. Her serum triglyceride level was high (215 mg/dl),and fasting plasma glucose was impaired (118 mg/dl,HbA1c 6.3). The serum complement 3 nephritic factor(C3NeF) is not available in our hospital.Skin histopathology from sclerotic plaques on the upperand lower back similarly showed characteristics of sclero-derma, which included thick sclerotic collagen throughoutthe dermis with sparse superficial perivascular infiltrationsof lymphocytes (Fig. 3).The patient’s EDTA blood was sent for genetic analysisof LMNB2 gene. Three heterozygous non-coding muta-tions (i.e., intron 8 + 11, intron 9 + 12, and 5¢-UTR-6G>A) on LMNB2 gene were detected.Between the ages of 38 and 48 years old, she hadundergone five operations for cheek reconstruction. Thelipoatrophy on both proximal arms did not need treat-ment. A dietary restriction plan and scheduled fastingplasma glucose with lipid profile would be followed up.She has been well without medication for her diabetesand dyslipidemia.DiscussionA detailed examination of family history, adipose distri-bution, and genetic test helps distinguish genetic andacquired type of partial lipodystrophy. Clinically, ourpatient most likely has a diagnosis of APL. The diseasegroup of partial lipoatrophy includes familial partial