China Journal of Leprosy and Skin Diseases ›› 2022, Vol. 38 ›› Issue (10): 717-719.doi: 10.12144/zgmfskin202210717

• Case Reports • Previous Articles     Next Articles

Ichthyosis follicularis, atrichia and photophobia syndrome caused by novel MBTPS2 mutation: a case report

ZHENG Ming1,2, LYU Xiaoyan1,2   

  1. 1 Department of Dermatology, West China Hospital, Sichuan University, Chengdu 610041, China;
    2 Laboratory of Dermatology, Clinical Institute of Inflammation and Immunology, Frontiers Science Center for Disease-related Molecular Network, West China Hospital, Sichuan University, Chengdu 610041, China
  • Online:2022-10-15 Published:2022-08-23

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Abstract: A 4-year-old male presented with atrichia, papules and photophobia for 4 years. Genetic test identified a hemizygotic mutation of c.3G>C(p.M1I). The heterozygous mutation was found in the patient's mother and there was no mutation was found in the father. The diagnosis of ichthyosis follicularis, atrichia and photophobia syndrome was made.

Key words: ichthyosis follicularis, atrichia and photophobia syndrome, MBTPS2, X-linked recessive inheritance