Dental management under general anesthesia in a pediatric patient with Netherton syndrome: a case report
DOI:
https://doi.org/10.18203/2394-6040.ijcmph20260325Keywords:
Netherton syndrome, SPINK5 gene, Pediatric care, Oral rehabilitation, General anesthesiaAbstract
Netherton syndrome (NS) is a rare genodermatosis with autosomal recessive inheritance caused by mutations in the serine peptidase inhibitor Kazal type 5 (SPINK5) gene, characterized by the triad of ichthyosiform erythroderma, hair shaft abnormality, and atopic diathesis. A 5-year-old Saudi boy diagnosed with NS is reported. He presented with many food allergies, mild lymphopenia, trichorrhexis invaginata, eczema-like lesions, elevated immunoglobulin E (IgE), and exfoliative erythroderma at birth. Several carious teeth and widespread non-plaque-induced gingival inflammation were among the intraoral findings. Following preoperative multidisciplinary clearance, full dental rehabilitation under general anesthesia was carried out. Prophylactics, composite restorations, stainless steel crowns, and extractions of non-restorable teeth were included as part of the treatment. The patient's recovery from the procedure went smoothly, and both oral comfort and function improved. In conclusion, this case highlights the critical role of multidisciplinary collaboration in the safe delivery of dental rehabilitation under general anesthesia for patients with NS.
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Moltrasio C, Romagnuolo M, Riva D, Colavito D, Ferrucci SM, Marzano AV, et al. Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene. Genes (Basel). 2023;14(5):1080. DOI: https://doi.org/10.3390/genes14051080
Ng E, Hale CS, Meehan SA, Cohen DE. Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum. Dermatol Online J. 2014;20(12):13030. DOI: https://doi.org/10.5070/D32012025055
Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, Zafiriou E, Patsatsi A, Stamatis C, et al. Netherton Syndrome: A Genotype-Phenotype Review. Mol Diagn Ther. 2017;21(2):137-52. DOI: https://doi.org/10.1007/s40291-016-0243-y
Hino R, Chiba Y, Maruya Y, Tadano M, Otake S, Hoshikawa S, et al. Case Report: Dental treatment under general anesthesia and dental management of a child with congenital ichthyosis. Front Dent Med. 2024;5:1481658. DOI: https://doi.org/10.3389/fdmed.2024.1481658
Ahn H, Yoon RK. Netherton syndrome: dental considerations. J Clin Pediatr Dent. 2009;34(1):77-9. DOI: https://doi.org/10.17796/jcpd.34.1.45180h21p2gu5405
Kostova P, Petrova G, Shahid M, Papochieva V, Miteva D, Yordanova I, et al. Netherton syndrome-A therapeutic challenge in childhood. Clin Case Rep. 2024;12(4):e8770. DOI: https://doi.org/10.1002/ccr3.8770
Nouwen AEM, Ragamin A, Knol MJ, Ott H, Weibel L, Has C, et al. Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus Study. Dermatology. 2025;241(1):35-48. DOI: https://doi.org/10.1159/000542215
Conceição SH, Machado GT, Campiolo EL, Silva JRA. “Netherton Syndrome: Case Report.” Residência Pediátrica. 2023;13(1). DOI: https://doi.org/10.25060/residpediatr-2023.v13n1-477
Yilmaz NA, Arayici ME, Efeoglu C. Impact of dental treatments under general anesthesia on oral health-related quality of life in children: a comprehensive meta-analysis. BMC Oral Health. 2025;25(1):84. DOI: https://doi.org/10.1186/s12903-025-05457-w
Jiang H, Shen L, Qin D, He S, Wang J. Effects of dental general anaesthesia treatment on early childhood caries: a prospective cohort study in China. BMJ Open. 2019;9(9):e028931. DOI: https://doi.org/10.1136/bmjopen-2019-028931
Xiang W, Lian C, Lu J, Zheng W, Li Q. Clinical characteristics of Netherton syndrome and exploration of targeted biologic therapy: two case reports. Front Allergy. 2025;6:1667357. DOI: https://doi.org/10.3389/falgy.2025.1667357
Brailo V, Janković B, Lozić M, Gabrić D, Kuna T, Stambolija V, et al. Dental Treatment Under General Anesthesia in a Day Care Surgery Setting. Acta Stomatol Croat. 2019;53(1):64-71. DOI: https://doi.org/10.15644/asc53/1/7
Prodinger C, Yerlett N, MacDonald C, Chottianchaiwat S, Goh L, Du Toit G, et al. Prevalence of and risk factors for nutritional deficiency and food allergy in a cohort of 21 patients with Netherton syndrome. Pediatr Allergy Immunol. 2023;34(1):e13914. DOI: https://doi.org/10.1111/pai.13914
Versteegh JJ, Dulfer K, Stuvel K, Pasmans SG, Utens EM. Netherton syndrome; neuropsychological and psychosocial functioning of child and adult patients and their parents. J Health Psychol. 2020;25(13-14):2296-316. DOI: https://doi.org/10.1177/1359105318790052
Gagro A, Pustišek N, Ožanić SB, Niseteo T, Sila S, Kolaček S, et al. “159 Severe Presentation of Netherton Syndrome: A Case Report.” Abstracts. 2021:A67.3-68. DOI: https://doi.org/10.1136/archdischild-2021-europaediatrics.159
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