Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C
Netherton syndrome (NS, 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 mut...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2019-08-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/742 |
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| author | Kemal Özyurt Mustafa Atasoy Ragıp Ertaş Yılmaz Ulaş Muhammed Reşat Akkuş Aslıhan Kiraz Hans Christian Hennies |
| author_facet | Kemal Özyurt Mustafa Atasoy Ragıp Ertaş Yılmaz Ulaş Muhammed Reşat Akkuş Aslıhan Kiraz Hans Christian Hennies |
| author_sort | Kemal Özyurt |
| collection | DOAJ |
| description |
Netherton syndrome (NS, 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, a serine protease inhibitor, is encoded by SPINK. 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.
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| format | Article |
| id | doaj-art-bb109661f84d46f7979c6d30e8ec3c02 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2019-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-bb109661f84d46f7979c6d30e8ec3c022025-08-20T02:01:51ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212019-08-0161410.24953/turkjped.2019.04.020Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 CKemal Özyurt0Mustafa Atasoy1Ragıp Ertaş2Yılmaz Ulaş3Muhammed Reşat Akkuş4Aslıhan Kiraz5Hans Christian HenniesDermatology Clinic, Kayseri Training and Research Center, Kayseri, Turkey.Dermatology Clinic, Kayseri Training and Research Center, Kayseri, Turkey.Dermatology Clinic, Kayseri Training and Research Center, Kayseri, Turkey.Dermatology Clinic, Kayseri Training and Research Center, Kayseri, Turkey.Dermatology Clinic, Kayseri Training and Research Center, Kayseri, Turkey.Medical Genetics Health Science University, Kayseri Training and Research Center, Kayseri, Turkey. Netherton syndrome (NS, 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, a serine protease inhibitor, is encoded by SPINK. 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. https://turkjpediatr.org/article/view/742Netherton syndromeeczemahyper IgE syndromeichthyosisserum IgE |
| spellingShingle | Kemal Özyurt Mustafa Atasoy Ragıp Ertaş Yılmaz Ulaş Muhammed Reşat Akkuş Aslıhan Kiraz Hans Christian Hennies Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C The Turkish Journal of Pediatrics Netherton syndrome eczema hyper IgE syndrome ichthyosis serum IgE |
| title | Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C |
| title_full | Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C |
| title_fullStr | Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C |
| title_full_unstemmed | Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C |
| title_short | Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C |
| title_sort | netherton syndrome previously misdiagnosed as hyper ige syndrome caused by a probable mutation in spink5 c |
| topic | Netherton syndrome eczema hyper IgE syndrome ichthyosis serum IgE |
| url | https://turkjpediatr.org/article/view/742 |
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