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
Full text not available from this repository.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: |
|
||||||||||||||||||||||||||||||||
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: |
|
||||||||||||||||||||||||||||||||
Refereed: | Yes | ||||||||||||||||||||||||||||||||
URI: | http://kups.ub.uni-koeln.de/id/eprint/13572 |
Downloads
Downloads per month over past year
Altmetric
Export
Actions (login required)
View Item |