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Netherton Syndrome

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1 Credit CME

A 7-year-old girl with presumed atopic dermatitis was evaluated at our institution’s department of dermatology. She had a history of erythroderma at birth and later showed signs of delayed growth. During her first years of life, she developed multiple food allergies, allergic asthma, and rhinitis. Her skin was dry, with marked redness of her face and hands (Figure 1A). Because of her sparse and brittle hair and thin eyebrows, Netherton syndrome (NS) was suspected. Examination of her hair using light microscopy showed invagination of the hair at several points along the shaft, which was consistent with trichorrhexis invaginata (“bamboo hair”) (Figure 1B). Immunohistochemistry performed on a skin biopsy showed absent staining for lymphoepithelial Kazal-type-related inhibitor. The diagnosis was confirmed by molecular genetic analysis, which showed 2 heterozygous pathogenic variants in the SPINK5 gene.

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Article Information

Corresponding Author: Jakob Lillemoen Drivenes, MD, Vestfold Hospital Trust, Halfdan Wilhelmsens alle 17, Tønsberg 3103, Norway (jakobdrivenes@hotmail.com).

Published Online: September 28, 2022. doi:10.1001/jamadermatol.2022.3796

Conflict of Interest Disclosures: Dr Drivenes reported involvement in clinical studies supported by Takeda outside the submitted work. No other disclosures were reported.

Additional Contributions: We thank the patient’s mother for granting permission to publish this information.

References
1.
Barbati  F , Giovannini  M , Oranges  T ,  et al.  Netherton syndrome in children: management and future perspectives.   Front Pediatr. 2021;9:645259.PubMedGoogle Scholar
2.
Sarri  CA , Roussaki-Schulze  A , Vasilopoulos  Y ,  et al.  Netherton syndrome: a genotype-phenotype review.   Mol Diagn Ther. 2017;21(2):137-152.PubMedGoogle ScholarCrossref
3.
Nouwen  AEM , Schappin  R , Nguyen  NT ,  et al.  Outcomes of systemic treatment in children and adults with Netherton syndrome: a systematic review.   Front Immunol. 2022;13:864449.PubMedGoogle Scholar
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