The Turkish Journal of Pediatrics 2019 , Vol 61 , Num 4
Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C
Kemal Özyurt 1 ,Mustafa Atasoy 1 ,Ragıp Ertaş 1 ,Yılmaz Ulaş 1 ,Muhammed Reşat Akkuş 1 ,Aslıhan Kiraz 2 ,Hans Christian Hennies 3-4-5
1 Dermatology Clinic, Kayseri Training and Research Center, Kayseri, Turkey
2 Medical Genetics Health Science University, Kayseri Training and Research Center, Kayseri, Turkey
3 Dermatogenetics, Department of Biological Sciences, University of Huddersfield, Huddersfield, UK
4 Cologne Center for Genomics University of Cologne University of Cologne, Cologne, Germany
5 Cluster of Excellence for Aging Research, University of Cologne University of Cologne, Cologne, Germany
DOI : 10.24953/turkjped.2019.04.020 Özyurt K, Atasoy M, Ertaş R, Ulaş Y, Akkuş MR, Kiraz A, Hennies HC. Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C. Turk J Pediatr 2019; 61: 604-607.

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. Keywords : Netherton syndrome, eczema, hyper IgE syndrome, serum IgE, ichthyosis

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