• Pediatric dermatology · Mar 2015

    Review Case Reports

    Hutchinson-Gilford progeria syndrome caused by an LMNA mutation: a case report.

    • Yan Chu, Zi-Gang Xu, Zhe Xu, and Lin Ma.
    • Department of Dermatology, Beijing Children's Hospital, Capital Medical University, Beijing, China.
    • Pediatr Dermatol. 2015 Mar 1; 32 (2): 271-5.

    AbstractHutchinson-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.© 2014 Wiley Periodicals, Inc.

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