Ichthyosis Follicularis With Alopecia And Photophobia Syndrome With Coexisting Palmoplantar Keratoderma Treated With Acitretin
November 2022
in “
International journal of trichology
”
Studysummary This case report describes a 6-year-old girl with IFAP syndrome who showed good improvement in cutaneous symptoms after one month of acitretin treatment.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.
