title: Hutchinson-Gilford progeria syndrome caused by an LMNA mutation: a case report.
abstract: Hutchinson-Gilford progeria syndrome is a rare genetic disorder characterized by premature aging of the skin, bones, heart, and blood vessels. We report a 6-year-old boy who was born at full term but presented with scleroderma-like appearance at 1 month of age and gradually developed clinical manifestations of progeria. He had characteristic facial features of prominent eyes, scalp, and leg veins; loss of scalp hair, eyebrows, and eyelashes; stunted growth; scleroderma-like changes of the skin; and a premature aged appearance. Metabolic investigations showed transient methylmalonic aciduria, and genetic testing of the peripheral blood identified the c.1824C>T heterozygous LMNA mutation. The present case is reported because of its rarity.
authors.affiliation: Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Chu
authors.forename: Zi-Gang
authors.initials: ZG
authors.lastname: Xu
authors.forename: Zhe
authors.initials: Z
authors.lastname: Xu
authors.forename: Lin
authors.initials: L
authors.lastname: Ma
mesh_terms: D002648:Child; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D009154:Mutation; D011371:Progeria / Q000175:diagnosis / Q000235:genetics*; D035583:Rare Diseases
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A