NORMAL PEROXISOMAL FUNCTION AND ABSENT SKELETAL MANIFESTATIONS IN CONRADI-HUNERMANN SYNDROME

被引:9
作者
PRENDIVILLE, JS
ZAPARACKAS, ZG
ESTERLY, NB
机构
[1] CHILDRENS MEM HOSP,DIV DERMATOL,CHICAGO,IL 60614
[2] CHILDRENS MEM HOSP,DIV OPHTHALMOL,CHICAGO,IL 60614
[3] NORTHWESTERN UNIV,SCH MED,CHICAGO,IL 60611
[4] MED COLL WISCONSIN,DEPT DERMATOL & PEDIAT,MILWAUKEE,WI 53226
关键词
D O I
10.1001/archderm.127.4.539
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
We describe a child with the classic cutaneous and ocular manifestations of Conradi-Hunermann syndrome in whom repeated roentgenographic studies during the first 2 years of life revealed no evidence of epiphyseal stippling. The findings in this case and others from the literature suggest that skeletal changes may be absent or show limited expression in patients with this condition and that chondrodysplasia punctata should not be considered an invariable feature of Conradi-Hunermann syndrome. Studies of peroxisomal function in our patient failed to confirm two previous reports of a significant reduction in activity of the peroxisomal enzyme dihydroxyacetone phosphate acyltransferase in this disorder.
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收藏
页码:539 / 542
页数:4
相关论文
共 12 条
[1]   PEROXISOMAL ENZYME DEFICIENCY IN X-LINKED DOMINANT CONRADI-HUNERMANN SYNDROME [J].
CLAYTON, PT ;
KALTER, DC ;
ATHERTON, DJ ;
BESLEY, GTN ;
BROADHEAD, DM .
JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 :358-360
[2]   INHERITED CHONDRODYSPLASIA PUNCTATA DUE TO A DELETION OF THE TERMINAL SHORT ARM OF AN X-CHROMOSOME [J].
CURRY, CJR ;
MAGENIS, RE ;
BROWN, M ;
LANMAN, JT ;
TSAI, J ;
OLAGUE, P ;
GOODFELLOW, P ;
MOHANDAS, T ;
BERGNER, EA ;
SHAPIRO, LJ .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (16) :1010-1015
[3]   DEFICIENCY OF ENZYMES CATALYZING THE BIOSYNTHESIS OF GLYCEROL ETHER LIPIDS IN ZELLWEGER SYNDROME - A NEW CATEGORY OF METABOLIC DISEASE INVOLVING THE ABSENCE OF PEROXISOMES [J].
DATTA, NS ;
WILSON, GN ;
HAJRA, AK .
NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (17) :1080-1083
[4]   CHONDRODYSPLASIA PUNCTATA - CONRADI-HUNERMANN SYNDROME [J].
EDIDIN, DV ;
ESTERLY, NB ;
BAMZAI, AK ;
FRETZIN, DF .
ARCHIVES OF DERMATOLOGY, 1977, 113 (10) :1431-1434
[5]  
FOLCH J, 1957, J BIOL CHEM, V226, P497
[6]  
HAPPLE R, 1983, LANCET, V2, P919
[7]  
HOLMES RD, 1987, NEW ENGL J MED, V316, P1608
[8]   X-LINKED DOMINANT CONRADI-HUNERMANN SYNDROME PRESENTING AS CONGENITAL ERYTHRODERMA [J].
KALTER, DC ;
ATHERTON, DJ ;
CLAYTON, PT .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1989, 21 (02) :248-256
[9]  
KOLDE G, 1984, ACTA DERM-VENEREOL, V64, P389
[10]  
MANZKE H, 1980, CLIN GENET, V17, P97