The Association of Milia-Like Calcinosis Cutis, Alopecia Totalis and Hyperthyroidism Linked With the Novel Mutation for RBM28

    September 2023 in “ Journal of the American Academy of Dermatology ”
    Khanh-Quang Tran, Hoang Van Minh, A Phan, Ngoc Diem Thi Nguyen, Vien The Tran, Giang Huong Tran, Bao Chi Bui, Phung Kim Thi Ngo
    TLDR Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
    The study explores the association between milia-like calcinosis cutis (CC), alopecia totalis (AT), and hyperthyroidism, linked to a novel mutation in the RBM28 gene. Calcinosis cutis involves calcium deposits in the skin and is often seen in Down syndrome, while alopecia totalis is a severe form of alopecia areata, leading to complete scalp hair loss. The findings suggest that children with alopecia areata, especially those with Down syndrome or signs of thyroid dysfunction, should be screened for thyroid disease.
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