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

共 50 条

[41] A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome [J].

Sugimoto, Keisuke ;

Nishi, Hitomi ;

Miyazawa, Tomoki ;

Fujita, Shinsuke ;

Okada, Mitsuru ;

Takemura, Tsukasa .

TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 2014, 232 (03) :163-166

[42] A novelSPINK5mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome [J].

Zelieskova, Maria ;

Banovcin, Peter ;

Kozar, Marek ;

Kozarova, Andrea ;

Nudzajova, Zuzana ;

Jesenak, Milos .

PEDIATRIC DERMATOLOGY, 2020, 37 (06) :1202-1204

[43] Description and phenotype of a novel C5 gene mutation and a novel combination: family report and literature review [J].

Lizama-Munoz, Asier ;

Gutierrez-Bautista, Juan Francisco ;

Bernal, Monica ;

Lopez-Nevot, Miguel Angel .

FRONTIERS IN IMMUNOLOGY, 2025, 16

[44] A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation [J].

Himi, Momoko ;

Fujimaki, Takuro ;

Yokoyama, Toshiyuki ;

Fujiki, Keiko ;

Takizawa, Toshiaki ;

Murakami, Akira .

JAPANESE JOURNAL OF OPHTHALMOLOGY, 2009, 53 (05) :541-545

[45] Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report [J].

Kediha, Mohamed Islam ;

Tazir, Meriem ;

Sternberg, Damien ;

Eymard, Bruno ;

Alipacha, Lamia .

JOURNAL OF MEDICAL CASE REPORTS, 2022, 16 (01)

[46] Moderate phenotype of a congenital myasthenic syndrome type 19 caused by mutation of the COL13A1 gene: a case report [J].

Mohamed Islam Kediha ;

Meriem Tazir ;

Damien Sternberg ;

Bruno Eymard ;

Lamia Alipacha .

Journal of Medical Case Reports, 16

[47] Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome [J].

Fallahi, Gholam Hossein ;

Sabbaghian, Mozhgan ;

Khalili, Manijeh ;

Parvaneh, Nima ;

Zenker, Martin ;

Rezaei, Nima .

EUROPEAN JOURNAL OF PEDIATRICS, 2011, 170 (02) :233-235

[48] Wolfram syndrome: Phenotype and novel mutation in two Taiwanese siblings [J].

Shu, SG ;

Tsai, CR ;

Chi, CS .

JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2003, 102 (11) :808-811

[49] TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report [J].

Li, Xin ;

Cheng, Qing ;

Ding, Yu ;

Li, Qun ;

Yao, Ruen ;

Wang, Jian ;

Wang, Xiumin .

BMC PEDIATRICS, 2019, 19 (1)

[50] TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report [J].

Xin Li ;

Qing Cheng ;

Yu Ding ;

Qun Li ;

Ruen Yao ;

Jian Wang ;

Xiumin Wang .

BMC Pediatrics, 19

← 1 2 3 4 5 →