Premium
Hutchinson–Gilford Progeria Syndrome Caused by an LMNA Mutation: A Case Report
Author(s) -
Chu Yan,
Xu ZiGang,
Xu Zhe,
Ma Lin
Publication year - 2014
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12406
Subject(s) - lmna , progeria , medicine , premature aging , scalp , dermatology , lamin , pathology , genetics , physiology , biology , nucleus , psychiatry , gene
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.