Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene.
Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene.
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维生素D受体基因突变引起的无毛症是无毛基因突变引起的全身性无毛症的表型。
DOI：
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发表时间：
2001
影响因子：
6.5
通讯作者：
G. Cotsarelis
中科院分区：
文献类型：
--
作者：
J. Miller;K. Djabali;T. Chen;Y. Liu;M. Ioffreda;S. Lyle;A. Christiano;M. Holick;G. Cotsarelis
全身性无毛症伴丘疹是一种罕见的疾病，其特征是出生后不久就脱发，并出现皮肤囊肿。无毛基因（HR）的突变在小鼠和人类中都引起了这种表型。我们报告一例无毛症伴丘疹的患者，其无毛基因正常，但维生素D受体的两个等位基因均发生突变。患者表现出维生素D抵抗性佝偻病，这通过她的成纤维细胞在体外对1，25-二羟维生素D3缺乏反应来证实。与无毛突变的个体类似，她的皮肤显示出缺乏正常毛囊以及存在毛囊残余和囊肿。囊肿上皮含有角蛋白-15-和角蛋白-17-阳性细胞，提示来自毛囊隆起和上皮干细胞的存在。虽然脱发与遗传性维生素D抵抗性佝偻病有关，但我们现在认为这种脱发在临床和病理上与全身性无毛伴丘疹无区别，后者以前被认为仅由HAIRLESS突变引起。这些发现表明，VDR和HR，这两个锌指蛋白，可能是在相同的遗传途径，控制出生后的毛囊周期。
Generalized atrichia with papules is a rare disorder characterized by loss of hair shortly after birth and development of cutaneous cysts. Mutations in the hairless gene (HR) cause this phenotype in both mouse and human. Here we present a case of atrichia with papules in a patient with a normal HAIRLESS gene but with mutations in both alleles of the VITAMIN D RECEPTOR. The patient exhibited vitamin D resistant rickets, which was confirmed by an absent response of her fibroblasts to 1,25-dihydroxyvitamin D3 in vitro. Similar to individuals with HAIRLESS mutations, her skin showed an absence of normal hair follicles and the presence of follicular remnants and cysts. The cyst epithelium contained keratin-15- and keratin-17-positive cells suggesting derivation from the hair follicle bulge and the presence of epithelial stem cells. Although hair loss has been reported in association with hereditary vitamin D resistant rickets, we now characterize this alopecia as clinically and pathologically indistinguishable from generalized atrichia with papules, which was previously thought to be caused only by mutations in HAIRLESS. These findings suggest that VDR and HR, which are both zinc finger proteins, may be in the same genetic pathway that controls postnatal cycling of the hair follicle.
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影响因子：
13.8
作者：
Smith,EL;Pincus,SH;Donovan,L;Holick,MF
通讯作者：
Holick,MF
影响因子：
4.8
作者：
Yoshiyuki Sakai;M. Demay
通讯作者：
Yoshiyuki Sakai;M. Demay
影响因子：
4.8
作者：
Li, YC;Amling, M;Demay, MB
通讯作者：
Demay, MB
DOI：
10.1073/pnas.94.18.9831
发表时间：
1997-09-02
影响因子：
11.1
作者：
Li, YC;Pirro, AE;DeMay, MB
通讯作者：
DeMay, MB
影响因子：
56.9
作者：
Ahmad, W;Haque, WFU;Christiano, AM
通讯作者：
Christiano, AM