Labia Majora Hypertrophy in a Patient Affected by Familial Partial Lipodystrophy Type 5: A Case Report on Diagnosis, Presentation, and Surgical Correction

Abstract

Background: Familial partial lipodystrophy (FPLD) is a rare disease, presenting as localized areas of lipodystrophy in the body and associated with defined genes mutations. Labia majora hypertrophy is rarely reported in the literature, and it has been described only once associated with the FLPD syndrome. We present a rare case of labia majora lipodystrophy successfully corrected with a pubo-pexy and a labial reduction plasty.

Methods: A 26-year-old girl presents with massive labia majora hypertrophy, not associated with any type of systemic comorbidity or infection. The hypertrophy was pure adipose and subcutaneous tissue. After exclusion of lymphedema, a lateral reduction labioplasty with pubo-pexy was performed in general anesthesia.

Results: The patient presented also a c.623G>A p. (Arg208Lys) missense mutation in AKT2 gene, usually associated with insulin resistance and lipodystrophy. After genetic counseling, the patient was diagnosed with FPLD type 5. The wounds healed perfectly, and the patient returned to normal life after 4 weeks from the operation.

Conclusions: We report the first case in the literature of FPLD type 5 associated with labia majora lipodystrophy and successfully corrected with reduction labioplasty.

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