HYPOMELANOSIS OF ITO - A MANIFESTATION OF MOSAICISM OR CHIMERISM
HYPOMELANOSIS OF ITO - A MANIFESTATION OF MOSAICISM OR CHIMERISM
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DOI：
10.1136/jmg.25.12.809
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发表时间：
1988-12-01
影响因子：
4
通讯作者：
ANDREWS, T
中科院分区：
文献类型：
--
作者：
DONNAI, D;READ, AP;ANDREWS, T
我们描述了三例皮肤表现的伊东黑素减少症。其中两个脚趾异常，在培养的皮肤成纤维细胞中有二倍体和三倍体细胞的混合物。发表的临床描述伊藤和二倍体-三倍体嵌合体的黑色素减少症进行了审查。我们研究了染色体异型性、HLA类型和DNA指纹，试图阐明我们患者的疾病起源。我们的结论是，黑色素减少伊藤是一个异质性组的疾病的表现，共同的因素是存在两个遗传上不同的细胞系。它可能是由染色体镶嵌或嵌合、合子后突变或X失活引起的。如果先证者是男性，复发的风险可以忽略不计;如果先证者是女性，风险也很低，但必须考虑X连锁突变。
We describe three patients with the cutaneous manifestations of hypomelanosis of Ito. Two, with unusual abnormalities of their toes, had a mixture of diploid and triploid cells in cultured skin fibroblasts. The published clinical descriptions of hypomelanosis of Ito and diploid-triploid mosaicism are reviewed. Chromosome heteromorphisms, HLA types, and DNA fingerprints were studied in an attempt to elucidate the origin of the disease in our patients. We conclude that hypomelanosis of Ito is a manifestation of a heterogeneous group of disorders, the common factor being the presence of two genetically different cell lines. It can result from chromosomal mosaicism or chimerism, from a postzygotic mutation, or from X inactivation. The risk of recurrence is negligible if the proband is a male; if the proband is female the risk is also low but an X linked mutation must be considered.