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Makeenko O.A.

Novosibirsk State University

Kokh N.V.

Novosibirsk State University;
Institute of Chemical Biology and Fundamental Medicine of the Siberian Branch of the Russian Acaemy of Sciences

Sergeeva I.G.

Novosibirsk State University

Clinical presentation of patients with a mutation in the filaggrin gene at the dermatologist’s office

Authors:

Makeenko O.A., Kokh N.V., Sergeeva I.G.

More about the authors

Read: 2135 times


To cite this article:

Makeenko OA, Kokh NV, Sergeeva IG. Clinical presentation of patients with a mutation in the filaggrin gene at the dermatologist’s office. Russian Journal of Clinical Dermatology and Venereology. 2022;21(3):317‑324. (In Russ.)
https://doi.org/10.17116/klinderma202221031317

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References:

  1. Sekiya A, Kono M and Akiyama, M. Author’s response to the comment to ‘Compound heterozygotes for filaggrin gene mutations do not always show severe atopic dermatitis’. J Eur Acad Dermatol Venereol. 2018;32:178-179.  https://doi.org/10.1111/jdv.14688
  2. Sergeant A, Campbell LE, Hull PR, Porter M, Palmer CN, Smith FJ, et al. Heterozygous null alleles in filaggrin contribute to clinical dry skin in young adults and the elderly. J Invest Dermatol. 2009;129:1042-1045.
  3. Engebretsen K, Linneberg A, Thuesen B, Szecsi P, Stender S, Menné T, Johansen J and Thyssen J. Xerosis is associated with asthma in men independent of atopic dermatitis and filaggrin gene mutations. J Eur Acad Dermatol Venereol. 2015;29:1807-1815. https://doi.org/10.1111/jdv.13051
  4. González-Tarancón R, Sanmartín R, Lorente F, et al. Prevalence of FLG loss-of-function mutations R501X, 2282del4, and R2447X in Spanish children with atopic dermatitis. Pediatr Dermatol. 2020;37:98-102.  https://doi.org/10.1111/pde.14025
  5. Cárdenas GV, Iturriaga C, Hernández CD, Tejos-Bravo M, Pérez-Mateluna G, Cabalin C, Urzúa M, Venegas-Salas LF, Fraga JP, Rebolledo B, Poli MC, Repetto GM, Casanello P, Castro-Rodríguez JA and Borzutzky A. Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis. Int J Dermatol. 2022;61(3):310-315.  https://doi.org/10.1111/ijd.15887
  6. Jurakic Toncic R, Kezic S, Jakasa I, Ljubojevic Hadzavdic S, Balic A, Petkovic M, Pavicic B, Zuzul K and Marinovic B. Filaggrin loss-of-function mutations and levels of filaggrin degradation products in adult patients with atopic dermatitis in Croatia. J Eur Acad Dermatol Venereol. 2020;34:1789-1794. https://doi.org/10.1111/jdv.16232
  7. Ota M, Sasaki T, Ebihara T, Yokosawa E, Murakami Y, Matsunaka H, et al. Filaggrin-gene mutation has minimal effect on the disease severity in the lesions of atopic dermatitis. J Dermatol. 2021;48:1688-1699. https://doi.org/10.1111/1346-8138.16087
  8. Cheng R, Zhang H, Zong W, Tang J, Han X, Zhang L, Zhang X, Gu H, Shu Y, Peng G, Huang L, Liu Q, Gao X, Guo Y and Yao Z. Development and validation of new diagnostic criteria for atopic dermatitis in children of China. J Eur Acad Dermatol Venereol. 2020;34:542-548.  https://doi.org/10.1111/jdv.15979
  9. Lagrelius M, Wahlgren C-F, Bradley M, et al. Filaggrin gene mutations in relation to contact allergy and hand eczema in adolescence. Contact Dermatitis. 2020;82:147-152.  https://doi.org/10.1111/cod.13444
  10. Elhaji Y, Sasseville D, Pratt M, et al. Filaggrin gene loss-of-function mutations constitute a factor in patients with multiple contact allergies. Contact Dermatitis. 2019;80:354-358.  https://doi.org/10.1111/cod.13268
  11. Novikova MS, Kokh NV, Mikailova DA, Sergeeva IG. Filaggrin gene mutations and cytokine genes polymorphism in siblings with atopic dermatitis. Russian Journal of Clinical Dermatology and Venereology = Klinichaskaya dermatologiya i venerologiya. 2021;20(3):43-50. (In Russ.). https://doi.org/10.17116/klinderma20212003143
  12. Luger T, Adaskevich U, Anfilova M, Dou X, Murashkin NN, Namazova-Baranova L, Nitochko O, Reda A, Svyatenko TV, Tamay Z, Tawara M, Vishneva EA, Vozianova S, Wang H and Zhao Z. Practical algorithm to inform clinical decision-making in the topical treatment of atopic dermatitis. J Dermatol. 2021;48:1139-1148. https://doi.org/10.1111/1346-8138.15921
  13. Drozhdina MB, Suslova EB. Immune response in atopic dermatitis: main pathogenetic mechanisms and stage-dependent correlations with age in regard to dermatological and non-dermatological systemic processes. Meditsin-skaya immunologiya. 2021;2(23):237-244. (In Russ.). https://doi.org/10.15789/1563-0625-IRI-2138
  14. Elias PM and Wakefield JS. Could cellular and signaling abnormalities converge to provoke atopic dermatitis? JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 2020;18:1215-1223. https://doi.org/10.1111/ddg.14232

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