A Case of Netherton Syndrome with Novel Mutation in SPINK5 Gene Expressing Incomplete Phenotype

被引：1

作者：

Patel, Tejas D. ^{[1
]}

Padhiyar, Jigna Krunal ^{[1
]}

Patel, Nayan H. ^{[1
]}

Trivedi, Nishi S. ^{[1
]}

机构：

[1] Gujarat Canc Soc Med Coll Hosp & Res Ctr, Dept Dermatol, Vernerol, Leprol, Room 35, Ahmedabd, Gujarat, India

来源：

INDIAN JOURNAL OF PAEDIATRIC DERMATOLOGY | 2020年 / 21卷 / 01期

关键词：

Netherton syndrome; novel mutation; phenotype; SPINK5; gene;

D O I：

10.4103/ijpd.IJPD_76_19

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Netherton syndrome (NS) is characterized by ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. It is also considered a probable primary immunodeficiency as many patients have shown increased tendency for infections and abnormal levels of various immunoglobulins. Primary defect in NS is mutation in SPINK5 (serine protease inhibitor Kazal-type 5) gene which leads to the defective expression and function of lymphoepithelial Kazal-type-related inhibitor. We describe a case of a 7-year-old male born out of first-degree consanguineous marriage with findings of novel mutation, noninvolvement of the hair shaft, and unusual histopathology.

引用

页码：73 / 75

页数：3

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