Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5: Netherton syndrome with probable mutation in SPINK5

Kemal Öyzurt, Mustafa Atasoy, Ragip Ertaş, Yilmaz Ulaş, Muhammed Reşat Akkuş, Aslıhan Kiraz, H. C. Hennies

Research output: Contribution to journalArticle

Abstract

Netherton syndrome (MIM256500) is an autosomal recessive disorder that includes ichthyosis linearis circumflexa and a predisposition to allergies, asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, and elevated serum IgE levels. The genetic bases of Netherton syndrome are mutations in the gene SPINK5, and the lymphoepitheial Kazal type related inhibitor, which is a serine protease inhibitor, is encoded by SPINK5.
Here a case is presented which showed a probable splice site mutation in SPINK5, which was previously unknown in databases and the literature, to point out the misdiagnosis of hyper-IgE syndrome in the early presentation of the phenotype. This case highlights that a genetic test can be critical for identifying NS. The finding of underlying mutations contributes to the understanding of Netherton syndrome and is instrumental in indicating a specific therapy. Notably, treatment with acitretin has significantly improved both the ichthyosis linearis circumflexa and eczema in our patient.
LanguageEnglish
JournalTurkish Journal of Pediatrics
Publication statusAccepted/In press - 16 Oct 2018

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Netherton Syndrome
Job Syndrome
Diagnostic Errors
Ichthyosis
Eczema
Mutation
Acitretin
Serine Proteinase Inhibitors
Immunoglobulin E
Hypersensitivity
Asthma
Databases
Phenotype
Therapeutics
Serum
Genes

Cite this

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title = "Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5: Netherton syndrome with probable mutation in SPINK5",
abstract = "Netherton syndrome (MIM256500) is an autosomal recessive disorder that includes ichthyosis linearis circumflexa and a predisposition to allergies, asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, and elevated serum IgE levels. The genetic bases of Netherton syndrome are mutations in the gene SPINK5, and the lymphoepitheial Kazal type related inhibitor, which is a serine protease inhibitor, is encoded by SPINK5. Here a case is presented which showed a probable splice site mutation in SPINK5, which was previously unknown in databases and the literature, to point out the misdiagnosis of hyper-IgE syndrome in the early presentation of the phenotype. This case highlights that a genetic test can be critical for identifying NS. The finding of underlying mutations contributes to the understanding of Netherton syndrome and is instrumental in indicating a specific therapy. Notably, treatment with acitretin has significantly improved both the ichthyosis linearis circumflexa and eczema in our patient.",
author = "Kemal {\"O}yzurt and Mustafa Atasoy and Ragip Ertaş and Yilmaz Ulaş and Akkuş, {Muhammed Reşat} and Aslıhan Kiraz and Hennies, {H. C.}",
year = "2018",
month = "10",
day = "16",
language = "English",
journal = "Turkish Journal of Pediatrics",
issn = "0041-4301",
publisher = "Turkish Journal of Pediatrics",

}

Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 : Netherton syndrome with probable mutation in SPINK5. / Öyzurt, Kemal; Atasoy, Mustafa; Ertaş, Ragip; Ulaş, Yilmaz; Akkuş, Muhammed Reşat ; Kiraz, Aslıhan; Hennies, H. C.

In: Turkish Journal of Pediatrics, 16.10.2018.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5

T2 - Turkish Journal of Pediatrics

AU - Öyzurt, Kemal

AU - Atasoy, Mustafa

AU - Ertaş, Ragip

AU - Ulaş, Yilmaz

AU - Akkuş, Muhammed Reşat

AU - Kiraz, Aslıhan

AU - Hennies, H. C.

PY - 2018/10/16

Y1 - 2018/10/16

N2 - Netherton syndrome (MIM256500) is an autosomal recessive disorder that includes ichthyosis linearis circumflexa and a predisposition to allergies, asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, and elevated serum IgE levels. The genetic bases of Netherton syndrome are mutations in the gene SPINK5, and the lymphoepitheial Kazal type related inhibitor, which is a serine protease inhibitor, is encoded by SPINK5. Here a case is presented which showed a probable splice site mutation in SPINK5, which was previously unknown in databases and the literature, to point out the misdiagnosis of hyper-IgE syndrome in the early presentation of the phenotype. This case highlights that a genetic test can be critical for identifying NS. The finding of underlying mutations contributes to the understanding of Netherton syndrome and is instrumental in indicating a specific therapy. Notably, treatment with acitretin has significantly improved both the ichthyosis linearis circumflexa and eczema in our patient.

AB - Netherton syndrome (MIM256500) is an autosomal recessive disorder that includes ichthyosis linearis circumflexa and a predisposition to allergies, asthma, and eczema, with hypereosinophilia, trichorrhexis invaginata, and elevated serum IgE levels. The genetic bases of Netherton syndrome are mutations in the gene SPINK5, and the lymphoepitheial Kazal type related inhibitor, which is a serine protease inhibitor, is encoded by SPINK5. Here a case is presented which showed a probable splice site mutation in SPINK5, which was previously unknown in databases and the literature, to point out the misdiagnosis of hyper-IgE syndrome in the early presentation of the phenotype. This case highlights that a genetic test can be critical for identifying NS. The finding of underlying mutations contributes to the understanding of Netherton syndrome and is instrumental in indicating a specific therapy. Notably, treatment with acitretin has significantly improved both the ichthyosis linearis circumflexa and eczema in our patient.

M3 - Article

JO - Turkish Journal of Pediatrics

JF - Turkish Journal of Pediatrics

SN - 0041-4301

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