Leão Lenora Maria Camarate Silveira Martins, Alencar Renata Carvalho de, Rodrigues Gisele da Cunha, Bouzas Izabel, Gallo Paulo, Rossini Ana
Universidade do Estado do Rio de Janeiro, RJ, Brasil.
Rev Bras Ginecol Obstet. 2011 Feb;33(2):99-103. doi: 10.1590/s0100-72032011000200008.
Dunnigan-type familial partial lipodystrophy (FPLD) is an autosomal dominant disease that results from heterozygous missense mutations in LMNA, the gene that encodes nuclear lamin A/C. FPLD is characterized by a progressive disappearance of subcutaneous adipose tissue in the limbs, gluteal region, abdomen and trunk, beginning at the time of or after puberty, and excessive amount of fat in the face, chin, labia majora, and intra-abdominal region, leading to a Cushingoid appearance and increased muscularity phenotype. Affected women are particularly predisposed to insulin resistance and its complications, including features of polycystic ovary syndrome. To emphasize the importance of an early FPLD diagnosis, which is necessary to prevent serious metabolic disturbances, we report a woman diagnosed at about 50 years of age. Increased muscularity and significant labia majora fat deposit made the diagnosis possible by gynecologists.
邓尼根型家族性部分脂肪营养不良（FPLD）是一种常染色体显性疾病，由编码核纤层蛋白A/C的基因LMNA中的杂合错义突变引起。FPLD的特征是，青春期或青春期后，四肢、臀部、腹部和躯干的皮下脂肪组织逐渐消失，而面部、下巴、大阴唇和腹腔内脂肪过多，导致库欣样外观和肌肉发达的表型。患病女性尤其易患胰岛素抵抗及其并发症，包括多囊卵巢综合征的特征。为强调早期诊断FPLD对预防严重代谢紊乱的重要性，我们报告了一名约50岁时被诊断出该病的女性。妇科医生通过其肌肉发达和大阴唇明显脂肪沉积做出了诊断。
