Ichthyosis Follicularis With Alopecia And Photophobia Syndrome With Coexisting Palmoplantar Keratoderma Treated With Acitretin

    Eswari Loganathan, Supriya Rajesh, AshaGowrappala Shanmukhappa
    TLDR A girl with a rare skin condition improved after one month of treatment with acitretin.
    A 6-year-old girl with Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome, a rare X-linked genetic disorder, was treated with acitretin (10 mg per day) and showed significant improvement in cutaneous features after 1 month. IFAP syndrome is characterized by follicular ichthyosis, alopecia, and photophobia, and in this case, the patient also presented with palmoplantar keratoderma. Diagnosis was confirmed through skin biopsy, which revealed dilated hair follicles with keratin plugs. The genetic cause is linked to mutations in the membrane-bound transcription factor peptidase, site 2 gene.
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