PLIN1-related familial partial lipodystrophy
ORPHA:280356· ICD-10 E88.1
Definition
A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood