title: [Dunnigan-type familial partial lipodystrophy: attention to precocious diagnosis].
abstract: 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.
authors.affiliation: Universidade do Estado do Rio de Janeiro, RJ, Brasil. lenora_leao@yahoo.com.br
authors.forename: Lenora Maria Camarate Silveira Martins
authors.initials: LM
authors.lastname: Leão
authors.forename: Renata Carvalho de
authors.initials: RC
authors.lastname: Alencar
authors.forename: Gisele da Cunha
authors.initials: Gda C
authors.lastname: Rodrigues
authors.forename: Izabel
authors.initials: I
authors.lastname: Bouzas
authors.forename: Paulo
authors.initials: P
authors.lastname: Gallo
authors.forename: Ana
authors.initials: A
authors.lastname: Rossini
mesh_terms: D042241:Early Diagnosis; D005260:Female; D006801:Humans; D052496:Lipodystrophy, Familial Partial / Q000175:diagnosis*; D008875:Middle Aged; D010641:Phenotype