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: Yan Chu, Zi-Gang Xu, Zhe Xu, Lin Ma
• Journal: Pediatric dermatology (Pediatr Dermatol) Vol. 32 Issue 2 Pg. 271-5 ( 2015) ISSN: 1525-1470 [Electronic] United States
• PMID: 25556323 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: © 2014 Wiley Periodicals, Inc.

Chemical References

• LMNA protein, human
• Lamin Type A

Topics

• Child
• Gene Expression Regulation
• Genetic Predisposition to Disease
• Humans
• Lamin Type A (genetics)
• Male
• Mutation
• Progeria (diagnosis, genetics)
• Rare Diseases