X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
DOI:
https://doi.org/10.2340/actadv.v106.44646Keywords:
dupilumab, hypohidrotic ectodermal dysplasia, atopic dermatitis, treatmentDownloads
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Reyes-Reali J, Mendoza-Ramos MI, Garrido-Guerrero E, Méndez-Catalá CF, Méndez-Cruz AR, Pozo-Molina G. Hypohidrotic ectodermal dysplasia: clinical and molecular review. Int J Dermatol 2018; 57: 965–972. DOI: https://doi.org/10.1111/ijd.14048
Timothy W, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, et al. Ectodermal dysplasias: classification and organization by phenotype, genotype and molecular pathway. Am J Med Genet A 2019; 179: 442–447. DOI: https://doi.org/10.1002/ajmg.a.61045
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015; 17: 405–424. DOI: https://doi.org/10.1038/gim.2015.30
Guttman-Yassky E, Bissonnette R, Ungar B, Suárez-Fariñas M, Ardeleanu M, Esaki H, et al. Dupilumab progressively improves systemic and cutaneous abnormalities in patients with atopic dermatitis. J Allergy Clin Immunol 2019; 143: 155–172. DOI: https://doi.org/10.1016/j.jaci.2018.08.022
Castro M, Corren J, Pavord ID, Maspero J, Wenzel S, Rabe KF, et al. Dupilumab efficacy and safety in moderate-to-severe uncontrolled asthma. N Engl J Med 2018; 378: 2486–2496. DOI: https://doi.org/10.1056/NEJMoa1804092
Bachert C, Han JK, Desrosiers M, Hellings PW, Amin N, Lee SE, et al. Efficacy and safety of dupilumab in patients with severe chronic rhinosinusitis with nasal polyps (LIBERTY NP SINUS-24 and LIBERTY NP SINUS-52): results from two multicentre, randomised, double-blind, placebo-controlled, parallel-group phase 3 trials. Lancet 2019; 394: 1638–1650. DOI: https://doi.org/10.1016/S0140-6736(19)31881-1
Debeuf M-EPH, Vlaanderen P, van Geel M, Steijlen PM, Verstraeten VLRM. Dupilumab for Hailey–Hailey disease. J Dermatolog Treat 2025; 36: 2557477. DOI: https://doi.org/10.1080/09546634.2025.2557477
Nakayama S, Yonekura S, Murase K, Nakagawa I, Izawa K, Nakajima S, et al. Dupilumab improves skin microbiome in a paediatric case of Netherton syndrome. J Eur Acad Dermatol Venereol 2025; 39: e1060–e1062. DOI: https://doi.org/10.1111/jdv.70006
Inazawa-Terada M, Namiki T, Omigawa C, Fujimoto T, Munetsugu T, Ugajin T, et al. An epidemiological survey of anhidrotic/hypohidrotic ectodermal dysplasia in Japan: high prevalence of allergic diseases. J Dermatol 2022; 49: 422–431. DOI: https://doi.org/10.1111/1346-8138.16278
Koguchi-Yoshioka H, Wataya-Kaneda M, Yutani M, Murota H, Nakano H, Sawamura D, et al. Atopic diathesis in hypohidrotic/anhidrotic ectodermal dysplasia. Acta Derm Venereol 2015; 95: 476–479. DOI: https://doi.org/10.2340/00015555-1978
Jungersted JM, Høgh JK, Hellgren LI, Agner T, Jemec GBE. Ceramide profile in hypohidrotic ectodermal dysplasia. Clin Exp Dermatol 2012; 37: 153–155. DOI: https://doi.org/10.1111/j.1365-2230.2011.04200.x
Schneider H, Schweikl C, Faschingbauer F, Hadj-Rabia S, Schneider P. A causal treatment for x-linked hypohidrotic ectodermal dysplasia: long-term results of short-term perinatal ectodysplasin A1 replacement. Int J Mol Sci 2023; 24: 7155. DOI: https://doi.org/10.3390/ijms24087155
Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, et al. Protocol for the phase 2 EDELIFE Trial investigating the efficacy and safety of intra-amniotic ER004 administration to male subjects with X-linked hypohidrotic ectodermal dysplasia. Genes (Basel) 2023; 14: 153. DOI: https://doi.org/10.3390/genes14010153
Schneider H, Faschingbauer F, Schuepbach-Mallepell S, Körber I, Wohlfart S, Dick A, et al. Prenatal correction of X-linked hypohidrotic ectodermal dysplasia. N Engl J Med 2018; 378: 1604–1610. DOI: https://doi.org/10.1056/NEJMoa1714322
Gaide O, Schneider P. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med 2003; 9: 614–618. DOI: https://doi.org/10.1038/nm861
Li X, Wu X, Elston Dm, Zhang J, Zhou C. Hypohidrotic ectodermal dysplasia with c.28delG mutation in ectodysplasin A gene and severe atopic dermatitis treated successfully with tofacitinib. Acta Derm Venereol 2021; 101: 1466. DOI: https://doi.org/10.2340/00015555-3707
Lee H-E, Chang I-K, Im M, Seo Y-J, Lee J-H, Lee Y. Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia. J Am Acad Dermatol 2013; 68: e139–e140. DOI: https://doi.org/10.1016/j.jaad.2012.10.019
Kowalczyk-Quintas C, Schneider P. Ectodysplasin A (EDA): EDA receptor signalling and its pharmacological modulation. Cytokine Growth Factor Rev 2014; 25: 195–203. DOI: https://doi.org/10.1016/j.cytogfr.2014.01.004
Mokry J, Pisal R. Development and maintenance of epidermal stem cells in skin adnexa. Int J Mol Sci 2020; 21: 9736. DOI: https://doi.org/10.3390/ijms21249736
Ji S-F, Zhou L-X, Sun Z-F, Xiang J-B, Cui S-Y, Li Y, et al. Small molecules facilitate single factor-mediated sweat gland cell reprogramming. Mil Med Res 2022; 9: 13. DOI: https://doi.org/10.1186/s40779-022-00372-5
Tokonzaba E, Chen J, Cheng X, Den Z, Ganeshan R, Müller EJ, et al. Plakoglobin as a regulator of desmocollin gene expression. J Invest Dermatol 2013; 133: 2732–2740. DOI: https://doi.org/10.1038/jid.2013.220
Omori-Miyake M, Yamashita M, Tsunemi Y, Kawashima M, Yagi J. In vitro assessment of IL-4- or IL-13-mediated changes in the structural components of keratinocytes in mice and humans. J Invest Dermatol 2014; 134: 1342–1350. DOI: https://doi.org/10.1038/jid.2013.503
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