Acrometageria: a spectrum of "premature aging" syndromes.
A child with manifestations of acrogeria and metageria, two "premature aging" syndromes, is presented. Because of his indistinct phenotype and because the question has been previously raised as to whether these conditions are separate, we propose the designation of acrometageria to describe this phenotypic continuum. As there is much in common clinically between acrometageria and the syndrome of type III procollagen deficiency (Ehlers-Danlos type IV), it might be presumed that a similar pathogenesis for acrometageria exists. This possibility has been tested previously, without demonstrating specific quantitative or qualitative deficits, but with some indirect evidence that collagen metabolism is deranged in these patients. One such crude indicator is the elevation of urinary hyaluronic acid levels, demonstrated in our patient and also observed in the phenotypically distinct Werner and Hutchinson-Gilford premature aging syndromes. On one hand, it could be argued that this supports the concept that premature aging syndromes exist as a biological continuum. On the other hand, it is equally valid to argue that syndromes of premature aging are so described merely because they include recognizable changes of normal aging and that the demonstration of an underlying mutation in a collagen gene, for example, invalidates their study as models of accelerated normal aging.
Greally
J M
JM
Department of Pediatrics, University of Pittsburgh, PA.
Boone
L Y
LY
Lenkey
S G
SG
Wenger
S L
SL
Steele
M W
MW
D002478:Cells, Cultured; D016922:Cellular Senescence / Q000502:physiology; D004247:DNA / Q000187:drug effects / Q000528:radiation effects; D004249:DNA Damage; D006801:Humans; D007223:Infant; D008297:Male; D011371:Progeria / Q000145:classification* / Q000175:diagnosis / Q000235:genetics; D012854:Sister Chromatid Exchange; D014466:Ultraviolet Rays
D004247:DNA