From Misdiagnosis to Molecular Insight: Lessons from Two ARCI Siblings Initially Treated as Netherton Syndrome

From Misdiagnosis to Molecular Insight: Lessons from Two ARCI Siblings Initially Treated as Netherton Syndrome

Authors

  • Shi Yan Department of dermatology, Chongqing Hospital of Traditional Chinese Medicine, Chongqing, P.R. China.
  • Yu-Ting Gan Department of dermatology, Chongqing Hospital of Traditional Chinese Medicine, Chongqing, P.R. China
  • Yan-Wen Liu Chongqing Clinical Research Center for Dermatology, Chongqing, P.R. China.
  • Yan-Xi Li Chongqing Key Laboratory of Integrative Dermatology Research, Chongqing, P.R. China.
  • Qi Song Department of dermatology, Chongqing Hospital of Traditional Chinese Medicine, Chongqing, P.R. China.

Keywords:

Autosomal recessive congenital ichthyosis, ALOXE3 mutation, Netherton syndrome

References

Uitto J, Youssefian L, Vahidnezhad H. Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis. Br J Dermatol. 2017;177(2):342-343. DOI:10.1111/bjd.15689

Mohamad J, Samuelov L, Malchin N, et al. Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population. Exp Dermatol. 2021;30(9):1290-1297. DOI:10.1111/exd.14345

Herz-Ruelas ME, Chavez-Alvarez S, Garza-Chapa JI, Ocampo-Candiani J, Cab-Morales VA, Kubelis-López DE. Netherton Syndrome: Case Report and Review of the Literature. Skin Appendage Disord. 2021;7(5):346-350. DOI:10.1159/000514699

Sugiura K, Akiyama M. Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis. J Dermatol Sci. 2015;79(1):4-9. DOI:10.1016/j.jdermsci.2015.04.009

Hake L, Süßmuth K, Komlosi K, et al. Quality of life and clinical characteristics of self-improving congenital ichthyosis within the disease spectrum of autosomal-recessive congenital ichthyosis. J Eur Acad Dermatol Venereol. 2022;36(4):582-591. DOI:10.1111/jdv.17873

Mohamad J, Nanda A, Pavlovsky M, et al. Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis. Exp Dermatol. 2020;29(8):742-748. DOI:10.1111/exd.14140

Downloads

Published

2026-01-30

How to Cite

1.
Yan S, Gan YT, Liu YW, Li YX, Song Q. From Misdiagnosis to Molecular Insight: Lessons from Two ARCI Siblings Initially Treated as Netherton Syndrome. Dermatol Pract Concept. 2026;16(1):6235. doi:10.5826/dpc.1601a6235

Share