Author(s)

Ana Raisa Jatahy Santos^1,2, Sabrina Pinto Ferreira¹, Moacir Benazzi¹, Mara Capra¹, Helen Paula Apparicio Medeiros¹, Ana Luísa de Jesus¹, Mirella Hansen de Almeida^1,3, Larissa Bianca Paiva Cunha de Sá¹, Alberto Krayyem Arbex^1,4

¹Division of Endocrinology, IPEMED Medical School, Rio de Janeiro, Brazil.
²Porto Velho Garrison Hospital—HGuPV, Porto Velho, Brazil.
³Division of Endocrinology, Central Air Force Hospital, Rio de Janeiro, Brazil.
⁴Diabetology Department, Malteser Krankenhaus St. Franziskus-Hospital, Flensburg, Germany.

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.

Dunnigan-Type Familial Partial Lipodystrophy, Insulin Resistance, Heterozygous Mutation

Santos, A. , Ferreira, S. , Benazzi, M. , Capra, M. , Medeiros, H. , de Jesus, A. , de Almeida, M. , de Sá, L. and Arbex, A. (2017) Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome. Open Journal of Endocrine and Metabolic Diseases, 7, 22-34. doi: 10.4236/ojemd.2017.71003.