A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

    January 2022 in “ Annals of Dermatology
    Jun‐Oh Shin, Dongyoung Roh, Kihyuk Shin … Hyun‐Chang Ko
    Studysummary In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Read the full study on anndermatol.org →
    Discuss this study in the Community →

    Research cited in this study 1

    1. Keratosis Follicularis Spinulosa Decalvans in a Female Indian journal of dermatology, venereology, and leprology · 2011

    Related research 2

    1. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
    2. Ichthyosis Follicularis, Alopecia, And Photophobia (IFAP) Syndrome Treated With Acitretin JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology · 2005