Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib

Authors

  • Xiangqian Li
  • Xia Wu
  • Dirk M. Elston
  • Jianzhong Zhang
  • Cheng Zhou Department of Dermatology, Peking University People’s Hospital, 100044 Beijing, China

DOI:

https://doi.org/10.2340/00015555-3693

Keywords:

atopic dermatitis, ectodysplasin A, hypohidrotic ectodermal dysplasia, JAK inhibitor, tofacitinib

Abstract

Abstract is missing (Short communication)

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References

Trzeciak WH, Koczorowski R. Molecular basis of hypohidrotic ectodermal dysplasia: an update. J Appl Genet 2016; 57: 51-61.

DOI: https://doi.org/10.1007/s13353-015-0307-4

Zeng B, Lu H, Xiao X, Zhou L, Lu J, Zhu L, et al. Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation. Oral Dis 2015; 21: 994-1000.

DOI: https://doi.org/10.1111/odi.12376

Nguyen-Nielsen M, Skovbo S, Svaneby D, Pedersen L, Fryzek J. The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010. Eur J Med Genet 2013; 56: 236-242.

DOI: https://doi.org/10.1016/j.ejmg.2013.01.012

Han Y, Wang X, Zheng L, Zhu T, Li Y, Hong J, et al. EDA pathogenic mutations in Chinese Han families with hypohidrotic ectodermal dysplasia and genotype-phenotype: a correlation analysis. Front Genet 2020; 11: 21.

DOI: https://doi.org/10.3389/fgene.2020.00021

Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409-416.

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Clarke A, Phillips DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987; 62: 989-996.

DOI: https://doi.org/10.1136/adc.62.10.989

Burger K, Schneider AT, Wohlfart S, Kiesewetter F, Huttner K, Johnson R, et al. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia. J Med Genet A 2014; 164A: 2424-2432.

DOI: https://doi.org/10.1002/ajmg.a.36541

D'Assante R, Fusco A, Palamaro L, Giardino G, Gallo V, Cirillo E, et al. Unraveling the link between ectodermal disorders and primary immunodeficiencies. Int Rev Immunol 2016; 35: 25-38.

More CB, Bhavsar K, Joshi J, Varma SN, Tailor M. Hereditary ectodermal dysplasia: a retrospective study. J Nat Sci Biol Med 2013; 4: 445-450.

DOI: https://doi.org/10.4103/0976-9668.117012

Miyake T, Kiniwa Y, Kosho T, Nakano H, Okuyama R. Hypohidrotic ectodermal dysplasia: A report of two cases. J Dermatol 2017; 44: 479-481.

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Mark BJ, Becker BA, Halloran DR, Bree AF, Sindwani R, Fete MD, et al. Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes. Ann Allergy Asthma Immunol 2012; 108: 435-438.

DOI: https://doi.org/10.1016/j.anai.2012.04.010

Bissonnette R, Papp KA, Poulin Y, Gooderham M, Raman M, Mallbris L, et al. Topical tofacitinib for atopic dermatitis: a phase IIa randomized trial. Br J Dermatol 2016; 175: 902-911.

DOI: https://doi.org/10.1111/bjd.14871

Levy LL, Urban J, King BA. Treatment of recalcitrant atopic dermatitis with the oral Janus kinase inhibitor tofacitinib citrate. J Am Acad Dermatol 2015; 73: 395-399.

DOI: https://doi.org/10.1016/j.jaad.2015.06.045

Guttman-Yassky E, Silverberg JI, Nemoto O, Forman SB, Wilke A, Prescilla R, et al. Baricitinib in adult patients with moderate-to-severe atopic dermatitis: a phase 2 parallel, double-blinded, randomized placebo-controlled multiple-dose study. J Am Acad Dermatol 2019; 80: 913-921.e919

DOI: https://doi.org/10.1016/j.jaad.2018.01.018

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Published

2021-01-04

How to Cite

Li, X., Wu, X., Elston, D. M., Zhang, J., & Zhou, C. (2021). Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib. Acta Dermato-Venereologica, 101(1), adv00352. https://doi.org/10.2340/00015555-3693

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