Abstract
Dunnigan-type partial lipodystrophy, which is characterized by a number of metabolic alterations, change in body fat distribution, and autosomal dominant inheritance pattern, is rare in the general population. Objective: To report the case of an adolescent with clinical and laboratory findings suggestive of Dunnigan-type partial lipodystrophy. Methods: Case report and literature review. Results: A 15-year-old adolescent presented at the clinic complaining of darkening of skin folds on her trunk and back. During physical examination, the presence of serious acanthosis nigricans in her cervical region, axillae, and intergluteal space was noted. Hirsutism in androgen-dependent areas was also observed, as well as relevant reduction of subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk and fat accumulation in the face and chin. Discussion. Dunnigan-type familial partial lipodystrophy is a rare dominant autosomal disease resulting from a heterozygous missense mutation in the LMNA gene, known as LPF type 2 (Dunnigan variant), which encodes the nuclear protein A/C-type lamin. It is characterized by the progressive disappearance of the subcutaneous adipose tissue in the limbs, gluteal region, abdomen, and trunk, with onset in puberty, followed by fat accumulation in other areas such as the face, chin, labia majora, and intra-abdominal region, leading to hypertrophy that may mimic the Cushing’s syndrome phenotype. Affected patients display marked insulin resistance and may consequently develop diabetes mellitus, acanthosis nigricans, hirsutism, and polycystic ovary syndrome. Conclusion: This case report highlights the importance of suspecting Dunnigan-type familial partial lipodystrophy in clinical practice. Early clinical diagnosis allows for measures that minimize the severe metabolic disorders associated with this disease and, consequently, these adolescents’ self-esteem issues.
Highlights
Lipodystrophies are a heterogeneous class of adipose tissue disorders characterized by body fat loss
Dunnigan-type familial partial lipodystrophy is a rare dominant autosomal disease resulting from a heterozygous missense mutation in the LMNA gene, known as LPF type 2 (Dunnigan variant), which encodes the nuclear protein A/C-type lamin
FPLD2, called Kobberling-Dunnigan syndrome or Dunnigan-type familial partial lipodystrophy, is an autosomal dominant disorder caused by missense mutations in the A/C lamin or LMNA gene [7]
Summary
Lipodystrophies are a heterogeneous class of adipose tissue disorders characterized by body fat loss. Among the familial or genetic forms, the most prevalent is type-2 familial partial lipodystrophy (Dunnigan variant; FPLD2). This disease is characterized by the loss of subcutaneous tissue in the extremities and trunk and fat accumulation on the neck [1] [2]. Patients display severe insulin resistance, with subsequent development of diabetes mellitus, acanthosis nigricans, hepatic steatosis, and polycystic ovary syndrome [3]. The prognosis of this syndrome is linked to metabolic and cardiac complications. The treatment includes changes in lifestyle, the use of insulin sensitizers such as metformin and glitazones, and subcutaneous leptin replacement [3] [6]
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