一名毛发和皮肤色素异常患者的四倍体-二倍体嵌合体：一种新的皮肤病学特征。

Tetraploid-diploid mosaicism in a patient with pigmentary anomalies of hair and skin: a new dermatologic feature.

作者信息

Schacht John Paul, Farnworth Elisha, Hogue Jacob, Rohena Luis

机构信息

Department of Pediatrics Division of Clinical Genetics Columbia University Medical Center New York City New York.

Flight Medicine Clinic 92nd Medical Group Fairchild Air Force Base Tacoma Washington.

出版信息

Clin Case Rep. 2017 Nov 29;6(1):103-108. doi: 10.1002/ccr3.1114. eCollection 2018 Jan.

Tetraploid-diploid mosaicism in humans is exceedingly rare. We present an 11-year-old boy with tetraploid-diploid mosaicism and coexistent hair hypopigmentation with skin hypo- and hyperpigmentation. This case expands the current literature as we are not aware of previous documentation of this unique combination of pigmentary anomalies.