Universität zu Köln

Ozyurt, Kemal, Atasoy, Mustafa ORCID: 0000-0003-1904-9878, Ertas, Ragip, Ulas, Yilmaz, Akkus, Muhammed Resat, Kiraz, Ashhan and Hennies, Hans Christian (2019). Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C. Turk. J. Pediatr., 61 (4). S. 604 - 608. ANKARA: TURKISH J PEDIATRICS. ISSN 0041-4301

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Abstract

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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ozyurt, Kemal UNSPECIFIED UNSPECIFIED UNSPECIFIED Atasoy, Mustafa UNSPECIFIED orcid.org/0000-0003-1904-9878 UNSPECIFIED Ertas, Ragip UNSPECIFIED UNSPECIFIED UNSPECIFIED Ulas, Yilmaz UNSPECIFIED UNSPECIFIED UNSPECIFIED Akkus, Muhammed Resat UNSPECIFIED UNSPECIFIED UNSPECIFIED Kiraz, Ashhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Hennies, Hans Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-135728
DOI:	10.24953/turkjped.2019.04.020
Journal or Publication Title:	Turk. J. Pediatr.
Volume:	61
Number:	4
Page Range:	S. 604 - 608
Date:	2019
Publisher:	TURKISH J PEDIATRICS
Place of Publication:	ANKARA
ISSN:	0041-4301
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ICHTHYOSIS LINEARIS CIRCUMFLEXA; DISORDERS Multiple languages Pediatrics Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/13572