Vitamin D-dependent rickets Type II with alopecia: two case reports and review of the literature

被引:10
作者
Al-Khenaizan, S
Vitale, P
机构
[1] King Fahd Natl Guard Hosp, Dept Med, Div Dermatol, King Abdulaziz Med City, Riyadh 11426, Saudi Arabia
[2] Consulting Clin, Riyadh, Saudi Arabia
关键词
D O I
10.1046/j.1365-4362.2003.01816.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Vitamin D-dependent rickets Type II is a rare autosomal recessive disorder. It usually presents with rachitic changes not responsive to Vitamin D treatment with elevated circulating levels of 1,25-Dihydroxyvitamin D-3, thus differentiating it from Vitamin D-dependent rickets Type I. Alopecia of the scalp or the body is seen in some families with Vitamin D-dependent rickets Type II. This is usually associated with more severe resistance to Vitamin D. We report two Saudi brothers with this disease, and review the salient features of this disease with emphasis on the associated alopecia.
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页码:682 / 685
页数:4
相关论文
共 51 条
[1]   DIFFERENTIATION OF MOUSE MYELOID-LEUKEMIA CELLS INDUCED BY 1-ALPHA,25-DIHYDROXYVITAMIN-D3 [J].
ABE, E ;
MIYAURA, C ;
SAKAGAMI, H ;
TAKEDA, M ;
KONNO, K ;
YAMAZAKI, T ;
YOSHIKI, S ;
SUDA, T .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (08) :4990-4994
[2]   CLONING AND EXPRESSION OF FULL-LENGTH CDNA-ENCODING HUMAN VITAMIN-D RECEPTOR [J].
BAKER, AR ;
MCDONNELL, DP ;
HUGHES, M ;
CRISP, TM ;
MANGELSDORF, DJ ;
HAUSSLER, MR ;
PIKE, JW ;
SHINE, J ;
OMALLEY, BW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (10) :3294-3298
[3]   LONG-TERM NOCTURNAL CALCIUM INFUSIONS CAN CURE RICKETS AND PROMOTE NORMAL MINERALIZATION IN HEREDITARY RESISTANCE TO 1,25-DIHYDROXYVITAMIN-D [J].
BALSAN, S ;
GARABEDIAN, M ;
LARCHET, M ;
GORSKI, AM ;
COURNOT, G ;
TAU, C ;
BOURDEAU, A ;
SILVE, C ;
RICOUR, C .
JOURNAL OF CLINICAL INVESTIGATION, 1986, 77 (05) :1661-1667
[4]   RICKETS AND ALOPECIA WITH RESISTANCE TO 1,25-DIHYDROXYVITAMIN-D - 2 DIFFERENT CLINICAL COURSES WITH 2 DIFFERENT CELLULAR DEFECTS [J].
BALSAN, S ;
GARABEDIAN, M ;
LIBERMAN, UA ;
EIL, C ;
BOURDEAU, A ;
GUILLOZO, H ;
GRIMBERG, R ;
LEDEUNFF, MJ ;
LIEBERHERR, M ;
GUIMBAUD, P ;
BROYER, M ;
MARX, SJ .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1983, 57 (04) :803-811
[5]   VITAMIN-D RESISTANT RICKETS WITH ALOPECIA - A FORM OF END ORGAN RESISTANCE TO 1,25 DIHYDROXY VITAMIN-D [J].
BEER, S ;
TIEDER, M ;
KOHELET, D ;
LIBERMAN, OA ;
VURE, E ;
BARJOSEPH, G ;
GABIZON, D ;
BOROCHOWITZ, ZU ;
VARON, M ;
MODAI, D .
CLINICAL ENDOCRINOLOGY, 1981, 14 (04) :395-402
[6]   VITAMIN-D, CALCIUM, AND EPIDERMAL DIFFERENTIATION [J].
BIKLE, DD ;
PILLAI, S .
ENDOCRINE REVIEWS, 1993, 14 (01) :3-19
[7]   VITAMIN-D-DEPENDENT RICKETS TYPE-II - RESISTANCE OF TARGET ORGANS TO 1,25-DIHYDROXYVITAMIN-D [J].
BROOKS, MH ;
BELL, NH ;
LOVE, L ;
STERN, PH ;
ORFEI, E ;
QUEENER, SF ;
HAMSTRA, AJ ;
DELUCA, HF .
NEW ENGLAND JOURNAL OF MEDICINE, 1978, 298 (18) :996-999
[8]   STRUCTURE AND REGULATION OF THE RAT 1,25-DIHYDROXYVITAMIN-D3 RECEPTOR [J].
BURMESTER, JK ;
WIESE, RJ ;
MAEDA, N ;
DELUCA, HF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (24) :9499-9502
[9]   1,25-DIHYDROXYVITAMIN-D RESISTANCE, RICKETS, AND ALOPECIA - ANALYSIS OF RECEPTORS AND BIORESPONSE IN CULTURED FIBROBLASTS FROM PATIENTS AND PARENTS [J].
CHEN, TL ;
HIRST, MA ;
CONE, CM ;
HOCHBERG, Z ;
TIETZE, HU ;
FELDMAN, D .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1984, 59 (03) :383-388
[10]  
CLEMENS TL, 1983, J CLIN ENDOCR METAB, V56, P824, DOI 10.1210/jcem-56-4-824