Features of sensitization to food allergens in children with congenital ichthyosis
- Authors: Mustafaeva D.I.1, Murashkin N.N.1,2,3, Makarova S.G.1, Pushkov A.A.1, Snovskaya M.A.1
-
Affiliations:
- National Medical Research Center for Children's Health
- I.M. Sechenov First Moscow State Medical University (Sechenov University)
- Central State Medical Academy
- Issue: Vol 23, No 1 (2026)
- Pages: 1-13
- Section: Original studies
- Submitted: 23.10.2025
- Accepted: 05.01.2026
- Published: 21.01.2026
- URL: https://rusalljournal.ru/raj/article/view/17066
- DOI: https://doi.org/10.36691/RJA17066
- EDN: https://elibrary.ru/GBGFJX
- ID: 17066
Cite item
Abstract
BACKGROUND: Congenital ichthyosis is a heterogeneous group of rare genetic skin diseases characterized by generalized keratinization disorders and epidermal barrier dysfunction. Among the various forms of ichthyosis, Netherton syndrome has been described as having the highest risk of developing allergies. However, the characteristics of sensitization and clinical manifestations of allergic diseases in other forms of congenital ichthyosis have not been studied.
AIM: To study the pattern of food sensitization in children with different forms of congenital ichthyosis.
METHODS: A retrospective analysis of the medical records of 43 children with congenital ichthyosis was conducted, in whom the levels of specific immunoglobulin E to food allergens were studied. The children were divided into 2 groups. Group I included 13 children with Netherton syndrome; the group II consisted of 30 children with other forms of ichthyosis. Children in group II were divided into subgroups: IIA (n = 17) with the autosomal recessive form of ichthyosis and IIB (n = 12) with the keratinopathic form of ichthyosis. One child with vulgar ichthyosis was also included in the study. The comparison group consisted of 40 children, comparable in age, without skin diseases and allergies. In groups I and II, allergological anamnesis and total immunoglobulin E levels were assessed. In all three groups, specific immunoglobulin E levels to 5 allergens were assessed. In children with Netherton syndrome, the level of antibodies to 10 allergens was additionally assessed.
RESULTS: The frequency of detection of elevated total immunoglobulin E levels in patients with Netherton syndrome in group I was significantly higher than in children in group II. Total immunoglobulin E levels exceeding 1000 IU/mL were also more common in group I. Sensitization to food allergens was detected in all children in group I and in 72.2 % of patients in group II, and was more common in children with the autosomal recessive form of ichthyosis. Sensitization to chicken egg white was detected in all children in group I and in 20.0 % of children in group II. Children with Netherton syndrome were also more often sensitized to cow’s milk proteins and other allergens compared to children with non-syndromic forms. In children with Netherton syndrome, specific immunoglobulin E levels were more often distributed from the low to moderately high class.
CONCLUSIONS: The data obtained during the study made it possible to estimate the frequency of sensitization to major food allergens in pediatric patients with various forms of congenital ichthyosis — in particular, such a rare disease as Netherton syndrome.
About the authors
Dinara I. Mustafaeva
National Medical Research Center for Children's Health
Author for correspondence.
Email: mustafaeva-dinara@mail.ru
ORCID iD: 0009-0007-2418-4069
SPIN-code: 1767-4054
Russian Federation, Moscow
Nikolay N. Murashkin
National Medical Research Center for Children's Health; I.M. Sechenov First Moscow State Medical University (Sechenov University); Central State Medical Academy
Email: m_nn2001@mail.ru
ORCID iD: 0000-0003-2252-8570
SPIN-code: 5906-9724
MD, Dr. Sci. (Medicine), Professor
Russian Federation, Moscow; Moscow; MoscowSvetlana G. Makarova
National Medical Research Center for Children's Health
Email: sm27@yandex.ru
ORCID iD: 0000-0003-4759-3563
SPIN-code: 2094-2840
MD, Dr. Sci. (Medicine)
Russian Federation, MoscowAleksandr A. Pushkov
National Medical Research Center for Children's Health
Email: pushkovgenetika@gmail.com
ORCID iD: 0000-0001-6648-2063
SPIN-code: 2928-5764
MD, Cand. Sci. (Biology)
Russian Federation, MoscowMarina A. Snovskaya
National Medical Research Center for Children's Health
Email: snows@inbox.ru
ORCID iD: 0000-0002-5263-6743
SPIN-code: 9899-1095
MD, Cand. Sci. (Medicine)
Russian Federation, MoscowReferences
- Murashkin NN, Avetisyan KO, Ivanov RA, Makarova SG. Congenital ichthyosis: clinical and genetic characteristics of the disease. Current Pediatrics. 2022;21(5):362–377. (In Russ.) doi: 10.15690/vsp.v21i5.2459 EDN: OODUNT
- Vahlquist A, Törmä H. Ichthyosis: a road model for skin research. Acta Derm Venereol. 2020;100(7):adv00097. doi: 10.2340/00015555-3433 EDN: WTXFKC
- Sun Q, Burgren NM, Cheraghlou S, et al. The genomic and phenotypic landscape of ichthyosis: an analysis of 1000 kindreds. JAMA Dermatol. 2022;158(1):16–25.
- Elias PM, Williams ML, Feingold KR. Abnormal barrier function in the pathogenesis of ichthyosis: therapeutic implications for lipid metabolic disorders. Clin Dermatol. 2012;30(3):311–322. doi: 10.1016/j.clindermatol.2011.08.017
- Fölster-Holst R, Naß C, Dähnhardt-Pfeiffer S, Freitag-Wolf S. Analysis of the structure and function of the epidermal barrier in patients with ichthyoses-clinical and electron microscopical investigations. J Eur Acad Dermatol Venereol. 2022;36(5):726–738. doi: 10.1111/jdv.17914 EDN: AEKYHU
- Pichery M, Huchenq A, Sandhoff R, et al. PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. Hum Mol Genet. 2017;26:1787–1800. doi: 10.1093/hmg/ddx079 EDN: YFPHVC
- Gutiérrez-Cerrajero C, Sprecher E, Paller AS, et al. Ichthyosis. Nat Rev Dis Primers. 2023;9(1):2. doi: 10.1038/s41572-022-00412-3 EDN: YITBTU
- Ishitsuka Y, Roop DR. The epidermis: redox governor of health and diseases. Antioxidants (Basel). 2021;11(1):47. doi: 10.3390/antiox11010047 EDN: JZAURN
- Lima Cunha D, Oram A, Gruber R, et al. hiPSC-derived epidermal keratinocytes from ichthyosis patients show altered expression of cornification markers. Int J Mol Sci. 2021;22(4):1785. doi: 10.3390/ijms22041785 EDN: GOMSGG
- Fluhr JW, Moore DJ, Lane ME, et al. Epidermal barrier function in dry, flaky and sensitive skin: a narrative review. J Eur Acad Dermatol Venereol. 2024;38(5):812–820. doi: 10.1111/jdv.19745 EDN: RFXOSR
- Matsui T, Amagai M. Dissecting the formation, structure and barrier function of the stratum corneum. Int Immunol. 2015;27(6):269–280. doi: 10.1093/intimm/dxv013
- Moore DJ, Rawlings AV. The chemistry, function and (patho)physiology of stratum corneum barrier ceramides. Int J Cosmet Sci. 2017;39(4):366–372. doi: 10.1111/ics.12399
- Suzuki M, Ohno Y, Kihara A. Whole picture of human stratum corneum ceramides, including the chain-length diversity of long-chain bases. J Lipid Res. 2022;63(7):100235. doi: 10.1016/j.jlr.2022.100235 EDN: JRPYZE
- Leung DY. New insights into atopic dermatitis: role of skin barrier and immune dysregulation. Allergol Int. 2013;62(2):151–161. doi: 10.2332/allergolint.13-RAI-0564
- Otani T, Furuse M. Tight junction structure and function revisited. Trends Cell Biol. 2020;30(10):805–817. doi: 10.1016/j.tcb.2020.08.004 EDN: SWIBUA
- Paller AS, Renert-Yuval Y, Suprun M, et al. An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis. J Allergy Clin Immunol. 2017;139(1):152–165. doi: 10.1016/j.jaci.2016.07.019
- Masayuki A. The three musketeers of the epidermal bar rier and atopic diseases. Cornea. 2014;33:S9. doi: 10.1097/ICO.0000000000000231
- Zhang Y, Tu C, Wang S, Xiao S. Expression of skin barrier protein filaggrin in skin diseases without atopic dermatitis. J Biosci Med. 2018;6(1):101–112. doi: 10.4236/jbm.2018.61009
- Kim Y, Lim KM. Skin barrier dysfunction and filaggrin. Arch Pharm Res. 2021;44(1):36–48. doi: 10.1007/s12272-021-01305-x EDN: HZEWFU
- Brough HA, Lanser BJ, Sindher SB, et al. Early intervention and prevention of allergic diseases. Allergy. 2022;77(2):416–441. doi: 10.1111/all.15006 EDN: QKTTVK
- Leung DYM, Berdyshev E, Goleva E. Cutaneous barrier dysfunction in allergic diseases. J Allergy Clin Immunol. 2020;145(6):1485–1497. doi: 10.1016/j.jaci.2020.02.021 EDN: RRBRXL
- Stuvel K, Heeringa JJ, Dalm VASH, et al. Comel–Netherton syndrome: a local skin barrier defect in the absence of an underlying systemic immunodeficiency. Allergy. 2020;75(7):1710–1720. doi: 10.1111/all.14197 EDN: PPVICY
- Scala E, Condorelli AG, Scala A, et al. IgE sensitization profile in patients with Netherton syndrome. Int Arch Allergy Immunol. 2022;183(12):1291–1296. doi: 10.1159/000526409 EDN: XHOPUH
- Barbati F, Giovannini M, Oranges T, et al. Netherton syndrome in children: management and future perspective. Front Pediatr. 2021;9:645259. doi: 10.3389/fped.2021.645259 EDN: JCFTWU
- Di WL, Harper J. Netherton syndrome. In: Hoeger P., Kinsler V., Yan A., et al., editors. Harper’s textbook of pediatric dermatology. 4th edn. John Wiley & Sons Ltd; 2019. doi: 10.1002/9781119142812.ch132
- Mocarska M, Muciek A, Dolinkiewicz J, et al. Netherton syndrome: a comprehensive literature review of pathogenesis, clinical manifestations, and therapeutic strategies. J Mother Child. 2025;29(1):106–113. doi: 10.34763/jmotherandchild.20252901.d-25-00014
- Tham EH, Rajakulendran M, Lee BW, Van Bever HPS. Epicutaneous sensitization to food allergens in atopic dermatitis: What do we know? Pediatr Allergy Immunol. 2020;31(1):7–18. doi: 10.1111/pai.13127 EDN: LAPFHC
- Brough HA, Liu AH, Sicherer S, et al. Atopic dermatitis increases the effect of exposure to peanut antigen in dust on peanut sensitization and likely peanut allergy. J Allergy Clin Immunol. 2015;135(1):164–170. doi: 10.1016/j.jaci.2014.10.007
- Dębińska A, Sozańska B. Epicutaneous sensitization and food allergy: preventive strategies targeting skin barrier repair-facts and challenges. Nutrients. 2023;15(5):1070. doi: 10.3390/nu15051070 EDN: QAQMAS
- Brough HA, Nadeau KC, Sindher SB, et al. Epicutaneous sensitization in the development of food allergy: what is the evidence and how can this be prevented? Allergy. 2020;75(9):2185–2205. doi: 10.1111/all.14304 EDN: JAZZZW
- Nowak-Wegrzyn A, Szajewska H, Lack G. Food allergy and the gut. Nat Rev Gastroenterol Hepatol. 2017;14(4):241–257. doi: 10.1038/nrgastro.2016.187
- Lack G. Epidemiologic risks for food allergy. J Allergy Clin Immunol. 2008;121(6):1331–1336. doi: 10.1016/j. jaci.2008.04.032
- Hammad H, Lambrecht BN. Barrier epithelial cells and the control of type 2 immunity. Immunity. 2015;43(1):29–40. doi: 10.1016/j.immuni.2015.07.007
- Werfel T, Allam JP, Biedermann T, et al. Cellular and molecular immunologic mechanisms in patients with atopic dermatitis. J Allergy Clin Immunol. 2016;138(2):336–349. doi: 10.1016/j.jaci.2016.06.010 EDN: XTYENB
- Zhu TH, Zhu TR, Tran KA, et al. Epithelial barrier dysfunctions in atopic dermatitis: a skin-gut-lung model linking microbiome alteration and immune dysregulation. Br J Dermatol. 2018;179(3):570–581. doi: 10.1111/bjd.16734
- Van Splunter M, Liu L, van Neerven RJJ, et al. Mechanisms underlying the skin-gut cross talk in the development of IgE-mediated food allergy. Nutrients. 2020;12(12):3830. doi: 10.3390/nu12123830 EDN: FSSVXH
- Cherrier M, Cerf-Bensussan N. Scratching beneath the surface: linking skin pathology with food allergy. Immunity. 2019;50(5):1124–1126. doi: 10.1016/j.immuni.2019.04.013
- Sampson HA, O’Mahony L, Burks AW, et al. Mechanisms of food allergy. J Allergy Clin Immunol. 2018;141(1):11–19. doi: 10.1016/j.jaci.2017.11.005
Supplementary files

