title: Germline mutation analysis in the CYLD gene in Chinese patients with multiple trichoepitheliomas.
abstract: Trichoepithelioma is a benign neoplasm that primarily shows follicular germinative differentiation. Classic trichoepithelioma typically presents as a skin-colored papule or nodule on the face or upper trunk; lesions have a predilection for the nose. Trichoepithelioma can be sporadic or familial and solitary or multiple. Most previously reported multiple trichoepithelioma cases are familial, and germline CYLD mutations could be detected in some patients. We performed mutational analysis of the germline CYLD gene in 8 Chinese multiple trichoepitheliomas patients, 6 of which were sporadic cases. A heterozygous missense mutation (c.1112C>A) in the 9th exon of the CYLD gene was detected in some mother-daughter patients. However, the germline CYLD mutation could not be detected in the 6 non-familial cases. The results suggest that the pathogenesis of sporadic multiple trichoepitheliomas may differ from that of familial cases. Our findings also further confirmed the genetic heterogeneity of multiple trichoepitheliomas.
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
authors.forename: Z L
authors.initials: ZL
authors.lastname: Li
authors.affiliation: Department of Dermatology, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu Province, China.
authors.forename: H H
authors.initials: HH
authors.lastname: Guan
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
authors.forename: X M
authors.initials: XM
authors.lastname: Xiao
authors.affiliation: Department of Dermatology, Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu Province, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Hui
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
authors.forename: W X
authors.initials: WX
authors.lastname: Jia
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
authors.forename: R X
authors.initials: RX
authors.lastname: Yu
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China.
authors.forename: H
authors.initials: H
authors.lastname: Chen
authors.affiliation: Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, China nylcr72@163.com.
authors.forename: C R
authors.initials: CR
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D002648:Child; D004252:DNA Mutational Analysis; D000074749:Deubiquitinating Enzyme CYLD; D005091:Exons; D005260:Female; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000378:metabolism / Q000473:pathology; D012878:Skin Neoplasms; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD