Homozygous Nonsense Mutation in SDR9C7 in a Chinese Patient With Autosomal Recessive Congenital Ichthyosis  

作　　者：Xin Huang Zhi-Ming Chen Yong Yang 

机构地区：[1]Genetic Skin Disease Center,Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs,Hospital for Skin Diseases(Institute of Dermatology),Chinese Academy of Medical Sciences and Peking Union Medical College,Nanjing,Jiangsu 210042,China

出　　处：《International Journal of Dermatology and Venereology》2023年第1期52-54,共3页国际皮肤性病学杂志（英文）

基　　金：supported by grants from the National Natural Science Foundation of China(Nos.81730084 and 81903195);CAMS Innovation Fund for Medical Sciences(CIFMS:2021-1-I2M-018)。

摘　　要：Introduction:Autosomal recessive congenital ichthyosis(ARCI)is a heterogeneous group of cornification disorders.To date,14 genes have been found to be related to ARCI.Case presentation:A 23-year-old woman developed generalized erythroderma and scales over her trunk and limbs shortly after birth,followed by recurrent blisters and nail deformities.A diagnosis of ARCI was made based on her clinical manifestations,family history,and genetic analysis,which revealed a homozygous mutation inSDR9C7(c.187C>T,p.Q63X).Discussion:Most genes responsible for ARCI are associated with epidermal lipid metabolism,which contributes to the cutaneous barrier.SDR9C7,which encodes short-chain dehydrogenase/reductase family 9C member 7,has also been recently found to play vital roles in this process by regulating ceramide binding to the epidermal cornified cell envelope.For patients clinically suspected to have ARCI,recurrent onychomycosis is a strong indication that they carry aSDR9C7 gene mutation.Conclusion:Remarkable phenotypic and genotypic heterogeneity exists among patients with ARCI.Genetic analysis is an effective tool in diagnosing this and other hereditary diseases.Our patient developed recurrent onychomycosis,a typical presentation of ARCI caused bySDR9C7 mutation,and the unusual blisters further expand the clinical phenotypic spectrum of ARCI.

关 键 词：autosomal recessive congenital ichthyosis SDR9C7 ONYCHOMYCOSIS BLISTERS 

分 类 号：R758.52[医药卫生—皮肤病学与性病学]