Hutchinson-Gilford progeria syndrome: a pathologic study.
Hutchinson-Gilford progeria syndrome is an extremely rare condition with features of premature and accelerated aging. The pattern of inheritance if unclear, although both autosomal recessive and autosomal dominant modes have been proposed. The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia; short stature; abnormal skin, teeth, and nails; beaked nose; loss of subcutaneous fat; and failure to thrive. This condition has been reported on all inhabited continents and has been described in all major races. Laboratory findings note an increased urinary excretion of hyaluronic acid. Death results from cardiovascular abnormalities in the majority of cases and usually occurs in the second decade of life. There is no effective treatment. We report the pathologic changes noted at autopsy on a 20-year-old woman with classic features of Hutchinson-Gilford progeria syndrome.
Ackerman
Jeanne
J
Department of Pathology, University of South Florida and Tampa General Hospital, Florida 33601, USA.
Gilbert-Barness
Enid
E
D000328:Adult; D001344:Autopsy; D001921:Brain / Q000473:pathology; D019066:Facies; D005260:Female; D006801:Humans; D006820:Hyaluronic Acid / Q000652:urine; D010641:Phenotype; D011371:Progeria / Q000175:diagnosis* / Q000473:pathology*
D006820:Hyaluronic Acid