Zhi Y P, Liu J, Han J W, Huang Y P, Gao Z Q, Yang Y, Wu R N
Department of Dermatology, International Mongolian Hospital of Inner Mongolia, Hohhot, Inner Mongolia Autonomous Region, PR China.
Department of Dermatology, Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia Autonomous Region, PR China.
Clin Exp Dermatol. 2016 Jul;41(5):510-3. doi: 10.1111/ced.12833. Epub 2016 Jun 7.
Olmsted syndrome (OS) is a rare disease, characterized by symmetrical, sharply defined, hyperkeratotic, mutilating plaques on the palms and soles, which are associated with periorificial keratotic plaques. Other clinical manifestations of OS include diffuse alopecia, leucokeratosis of the oral mucosa, onychodystrophy, hyperkeratotic linear streaks, follicular hyperkeratosis and constriction of the digits. A recent study identified de novo mutations in the gene for transient receptor potential vanilloid 3 (TRPV3), causing constitutive activation of the TRPV3 channel, as a cause of OS. We report familial inheritance of OS in a family from Mongolia, which was caused by a previously undescribed G573V point mutation in TRPV3. To date, mutations in the G573 residue of TRPV3 have been reported in seven cases of OS: G573S in five cases, and G573C and G573A mutations in one case each. We present a Mongolian familial case of G573V point mutation in TRPV3.
奥姆斯特德综合征（OS）是一种罕见疾病，其特征为手掌和足底出现对称、边界清晰的角化过度性致残性斑块，并伴有口周角化性斑块。OS的其他临床表现包括弥漫性脱发、口腔黏膜白色角化病、甲营养不良、角化过度性线性条纹、毛囊角化过度以及手指挛缩。最近一项研究发现，瞬时受体电位香草酸亚型3（TRPV3）基因的新生突变导致TRPV3通道的组成性激活，是OS的病因。我们报告了一个来自蒙古的家庭中OS的家族性遗传情况，其病因是TRPV3基因中一个此前未描述的G573V点突变。迄今为止，已在7例OS病例中报道了TRPV3基因G573位点的突变：5例为G573S，1例为G573C，1例为G573A。我们展示了一例TRPV3基因G573V点突变的蒙古家族病例。
