Progeria

Abstract

• Progeria, also known as the Hutchinson-Gilford syndrome, is an extremely rare condition that was initially reported by Johnathan Hutchinson in 1886 and further described by Hastings Gilford in 1904. Transmission is most likely from a sporadic autosomal dominant mutation. Clinical manifestations are evident by the first or second year of life and include the physical characteristics usually associated with the elderly. Mentally, patients are alert and attentive with normal intelligence and emotions. Histopathologic changes occur primarily in the skin, bone, and cardiovascular tissues, while other organs appear to be unaffected. Laboratory findings are unremarkable, with the exception of an increased urinary excretion of hyaluronic acid. The diagnosis rests on the clinical presentation; at present, no treatment has been proved to be effective. Death results from cardiovascular abnormalities in the majority of cases and usually occurs between the ages of 10 and 15 years. Current research suggests an underlying defect of hyaluronic acid that may possibly account for the entire process. (Arch Dermatol. 1989;125:540-544)