Research & Literature

Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum.

Ng E, Hale CS, Meehan SA, Cohen DE

Dermatology online journal 2014; (20(12)).

Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome.

Bittencourt Mde J, Moure ER, Pies OT, et al.

Anais brasileiros de dermatologia 2015; (90(1)):114-6.

Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome.

Guerra L, Fortugno P, Pedicelli C, et al.

Acta dermato-venereologica 2015; (95(6)):720-4 doi:10.2340/00015555-2075.

Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy.

Singer R, Çopur M, Yüksel EN, et al.

Journal of dermatological case reports 2015; (9(4)):110-2 doi:10.3315/jdcr.2015.1214.

The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition.

Jain SP, Jain PA, Pandey N

Journal of clinical and diagnostic research : JCDR 2016; (10(4)):WD01-2 doi:10.7860/JCDR/2016/18200.7655.

Netherton Syndrome: A Genotype-Phenotype Review.

Sarri CA, Roussaki-Schulze A, Vasilopoulos Y, et al.

Molecular diagnosis & therapy 2017; (21(2)):137-152 doi:10.1007/s40291-016-0243-y.

Is c.1431-12G>A A common European mutation of SPINK5? report of a patient with Netherton Syndrome.

Śmigiel R, Królak-Olejnik B, Śniegórska D, et al.

Balkan journal of medical genetics : BJMG 2016; (19(2)):81-84 doi:10.1515/bjmg-2016-0040.

Clinical and molecular implications of structural changes to desmosomes and corneodesmosomes.

Ishida-Yamamoto A, Igawa S, Kishibe M, Honma M

The Journal of dermatology 2018; (45(4)):385-389 doi:10.1111/1346-8138.14202.

Netherton syndrome: A neonatal case with respiratory insufficiency.

Okulu E, Tunc G, Erdeve O, et al.

Archivos argentinos de pediatria 2018; (116(4)):e609-e611 doi:10.5546/aap.2018.eng.e609.

Netherton syndrome; neuropsychological and psychosocial functioning of child and adult patients and their parents.

Versteegh JJ, Dulfer K, Stuvel K, et al.

Journal of health psychology 2020; (25(13-14)):2296-2316 doi:10.1177/1359105318790052.

Trichoscopy in Hair Shaft Disorders.

Rudnicka L, Olszewska M, Waśkiel A, Rakowska A

Dermatologic clinics 2018; (36(4)):421-430 doi:10.1016/j.det.2018.05.009.

Netherton Syndrome: A Case Report and Review of Literature.

Saleem HMK, Shahid MF, Shahbaz A, et al.

Cureus 2018; (10(7)):e3070 doi:10.7759/cureus.3070.

LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome.

Wiegmann H, Valentin F, Tarinski T, et al.

The British journal of dermatology 2019; (181(5)):999-1008 doi:10.1111/bjd.17820.

Burden of itch in ichthyosis: a multicentre study in 94 patients.

De Palma AM, Mazereeuw-Hautier J, Giehl K, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2019; (33(11)):2095-2100 doi:10.1111/jdv.15613.

Physiological and pathological roles of kallikrein-related peptidases in the epidermis.

Kishibe M

Journal of dermatological science 2019; (95(2)):50-55 doi:10.1016/j.jdermsci.2019.06.007.

[Fatal outcome of Netherton syndrome due to excessive use of topical corticosteroids in an adult patient].

Valette C, Ofaiche J, Severino M, Mazereeuw-Hautier J

Annales de dermatologie et de venereologie 2020; (147(1)):36-40 doi:10.1016/j.annder.2019.09.003.

Comel-Netherton syndrome: A local skin barrier defect in the absence of an underlying systemic immunodeficiency.

Stuvel K, Heeringa JJ, Dalm VASH, et al.

Allergy 2020; (75(7)):1710-1720 doi:10.1111/all.14197.

Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C.

Özyurt K, Atasoy M, Ertaş R, et al.

The Turkish journal of pediatrics 2019; (61(4)):604-607.

Hair abnormality in Netherton syndrome observed under polarized light microscopy.

Utsumi D, Yasuda M, Amano H, et al.

Journal of the American Academy of Dermatology 2020; (83(3)):847-853 doi:10.1016/j.jaad.2019.08.024.

Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature.

Gouin O, Barbieux C, Leturcq F, et al.

The Journal of investigative dermatology 2020; (140(6)):1184-1194 doi:10.1016/j.jid.2019.10.026.

Netherton's Syndrome: A Case of Two Male Siblings Diagnosed in Adulthood.

Flora A, Smith A

Case reports in dermatology 2020; (12(1)):64-69 doi:10.1159/000507359.

Genetic activation of Nrf2 reduces cutaneous symptoms in a murine model of Netherton syndrome.

Muzumdar S, Koch M, Hiebert H, et al.

Disease models & mechanisms 2020; (13(5)) doi:10.1242/dmm.042648.

The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.

Bellon N, Hadj-Rabia S, Moulin F, et al.

The British journal of dermatology 2021; (184(3)):532-537 doi:10.1111/bjd.19265.

Transepidermal water loss in the orphan forms of ichthyosis.

Erickson TR, Murphrey MB, Abu-Zayed H, et al.

Pediatric dermatology 2020; (37(4)):771-773 doi:10.1111/pde.14221.

A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.

Zelieskova M, Banovcin P, Kozar M, et al.

Pediatric dermatology 2020; (37(6)):1202-1204 doi:10.1111/pde.14318.

A Case Report on Netherton Syndrome.

Abdalrheem WO, Alluhayyan OB, Alharbi A

Cureus 2020; (12(7)):e9166 doi:10.7759/cureus.9166.

Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large-sized genomic deletion mutation, and successful treatment of intravenous immunoglobulin.

Zhang Z, Pan C, Wei R, et al.

Molecular genetics & genomic medicine 2021; (9(3)):e1600 doi:10.1002/mgg3.1600.

A Potent and Selective Kallikrein-5 Inhibitor Delivers High Pharmacological Activity in Skin from Patients with Netherton Syndrome.

Liddle J, Beneton V, Benson M, et al.

The Journal of investigative dermatology 2021; (141(9)):2272-2279 doi:10.1016/j.jid.2021.01.029.

Netherton Syndrome in Children: Management and Future Perspectives.

Barbati F, Giovannini M, Oranges T, et al.

Frontiers in pediatrics 2021; (9()):645259 doi:10.3389/fped.2021.645259.

Netherton Syndrome: Case Report and Review of the Literature.

Herz-Ruelas ME, Chavez-Alvarez S, Garza-Chapa JI, et al.

Skin appendage disorders 2021; (7(5)):346-350 doi:10.1159/000514699.

Successful treatment of Netherton syndrome with dupilumab: A case report and review of the literature.

Wang J, Yu L, Zhang S, et al.

The Journal of dermatology 2022; (49(1)):165-167 doi:10.1111/1346-8138.16253.

A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.

Hamza N, Al Sukaiti N, Ahmed KAM, et al.

Sultan Qaboos University medical journal 2021; (21(4)):652-656 doi:10.18295/squmj.4.2021.047.

Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma.

Cuperus E, Bygum A, Boeckmann L, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2022; (36(7)):973-986 doi:10.1111/jdv.18043.

Persistent methicillin-resistant Staphylococcus aureus bacteremia in an adult patient with Netherton's syndrome: A case report.

Takahashi M, Hagiya H, Tanaka S, et al.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 2022; (28(7)):978-981 doi:10.1016/j.jiac.2022.02.021.

Outcomes of Systemic Treatment in Children and Adults With Netherton Syndrome: A Systematic Review.

Nouwen AEM, Schappin R, Nguyen NT, et al.

Frontiers in immunology 2022; (13()):864449 doi:10.3389/fimmu.2022.864449.

Treatment Experiences with Intravenous Immunoglobulins, Ixekizumab, Dupilumab, and Anakinra in Netherton Syndrome: A Case Series.

Ragamin A, Nouwen AEM, Dalm VASH, et al.

Dermatology (Basel, Switzerland) 2023; (239(1)):72-80 doi:10.1159/000525987.

Topical glucocorticoid application causing iatrogenic Cushing's syndrome followed by secondary adrenal insufficiency in infants: two case reports.

Matejek N, Hoos J, Holterhus PM, et al.

Journal of medical case reports 2022; (16(1)):455 doi:10.1186/s13256-022-03659-2.

Dupilumab improves clinical symptoms in children with Netherton syndrome by suppressing Th2-mediated inflammation.

Yan S, Wu X, Jiang J, et al.

Frontiers in immunology 2022; (13()):1054422 doi:10.3389/fimmu.2022.1054422.

Prevalence of and risk factors for nutritional deficiency and food allergy in a cohort of 21 patients with Netherton syndrome.

Prodinger C, Yerlett N, MacDonald C, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2023; (34(1)):e13914 doi:10.1111/pai.13914.

Long-term dupilumab therapy in Netherton syndrome with severe atopic manifestations: Case report and review of the literature.

Özkaya E, Günay MB, Babuna Kobaner G, et al.

The Australasian journal of dermatology 2023; (64(2)):272-277 doi:10.1111/ajd.13986.

Netherton Syndrome in a Mother and Her Two Children.

DeMoss J, Cooper L, Felts C, Wittenberg G

South Dakota medicine : the journal of the South Dakota State Medical Association 2022; (75(12)):554-556.

Clinical and genetic characterization of Netherton syndrome due to SPINK5 founder variant in Latvian population.

Nartisa I, Kirsteina R, Neiburga KD, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2023; (34(4)):e13937 doi:10.1111/pai.13937.

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene.

Moltrasio C, Romagnuolo M, Riva D, et al.

Genes 2023; (14(5)) doi:10.3390/genes14051080.

Oral Tofacitinib Therapy for the Effective Management of Netherton Syndrome.

Dodeja A, Meshram K, Pande S, et al.

Cureus 2023; (15(5)):e39349 doi:10.7759/cureus.39349.

Severe Hypernatremia as Presentation of Netherton Syndrome.

Di Nora A, Consentino MC, Messina G, et al.

Global medical genetics 2023; (10(4)):335-338 doi:10.1055/s-0043-1776983.

[A case of neonatal Netherton syndrome].

Zhu Y, Jiang SY, Zhang R, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2024; (26(1)):103-106 doi:10.7499/j.issn.1008-8830.2307056.

Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways.

Petrova E, López-Gay JM, Fahrner M, et al.

Communications biology 2024; (7(1)):152 doi:10.1038/s42003-024-05780-y.

Netherton Syndrome with a Novel Likely Pathogenic Variant c.420del (p.Ser141ProfsTer5) in SPINK5 Gene: A Case Report.

Kovacheva K, Kamburova Z, Vasilev P, Yordanova I

Case reports in dermatology 2024; (16(1)):47 doi:10.1159/000536083.

Personal, financial and time burden in inherited ichthyoses: A survey of 144 patients in a university-based setting.

Klein C, Oji V, Sommer R, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2024; (38(9)):1809-1817 doi:10.1111/jdv.19804.

Interprofessional Collaboration: Differentiating Netherton Syndrome and Atopic Dermatitis in an African American Infant.

Park EG, Besly K, Campos JJ, Rezk A

Cureus 2024; (16(3)):e55905 doi:10.7759/cureus.55905.

Netherton Syndrome in Thai Children: A Report of Two Cases With a Literature Review.

Temboonnark P, Daengsuwan T

Cureus 2024; (16(6)):e62718 doi:10.7759/cureus.62718.

Developing a Core Outcome Set for Netherton Syndrome: An International Multi-Stakeholder e-Delphi Consensus Study.

Nouwen AEM, Ragamin A, Knol MJ, et al.

Dermatology (Basel, Switzerland) 2025; (241(1)):35-48 doi:10.1159/000542215.

Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control.

Vollmuth Y, Alelq NA, Sattler F, et al.

Journal of clinical immunology 2024; (45(1)):42.

Management of congenital ichthyoses: guidelines of care: Part two: 2024 update.

Mazereeuw-Hautier J, Paller AS, O'Toole E, et al.

The British journal of dermatology 2025; (193(1)):28-43 doi:10.1093/bjd/ljaf077.

Secukinumab as a Novel Treatment for Chronic Netherton Syndrome in a Young Adult.

Buchukuri I, Chalatashvili G, Gotua M, et al.

The American journal of case reports 2025; (26()):e946411 doi:10.12659/AJCR.946411.

Bilateral renal vein thrombosis in a preterm with Netherton syndrome.

Roche-Gomez A, Voskanyan D, Śladowska-Kozłowska J, et al.

Pediatric nephrology (Berlin, Germany) 2025; (40(11)):3391-3393 doi:10.1007/s00467-025-06821-2.

Netherton Syndrome Perspectives.

Hon KLE, Cheung YC, Chan ZM, et al.

Current pediatric reviews 2025; doi:10.2174/0115733963361849250611072347.

Netherton Syndrome: A Comprehensive Literature Review of Pathogenesis, Clinical Manifestations, and Therapeutic Strategies.

Mocarska M, Muciek A, Dolinkiewicz J, et al.

Journal of mother and child 2025; (29(1)):106-113 doi:10.34763/jmotherandchild.20252901.d-25-00014.

Netherton Syndrome: A Case-Based Review of Diagnosis, Management, and Emerging Treatments.

Kraljević D, Mikulić S, Damjanović A

Acta dermatovenerologica Croatica : ADC 2025; (33(1)):26-30.

Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images.

Nagshabandi KN, Alsalhi A

Clinical case reports 2026; (14(1)):e71755 doi:10.1002/ccr3.71755.

Netherton Syndrome in a preterm newborn presenting with erythroderma and temperature instability: a case report.

Rossos AEM, Levy R, Ansari NS

BMC pediatrics 2026; (26(1)).

Beyond Eczema Control: Long-Term Outcomes of Dupilumab Therapy in Six Patients with Netherton Syndrome.

Zawadzińska-Halat K, Stec M, Poznańska-Kurowska K, Pastuszczak M

Biologics : targets & therapy 2026; (20()):638248 doi:10.2147/BTT.S638248.