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.
40 citations,
August 2005 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Acitretin moderately improved skin and eye issues but not hair loss or light sensitivity in a 3-year-old with IFAP syndrome.
3 citations,
January 2015 in “Indian journal of paediatric dermatology” Oral isotretinoin temporarily improved skin symptoms in a child with IFAP syndrome.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
65 citations,
November 2016 in “Journal of The American Academy of Dermatology” The document concludes that early recognition and treatment of primary cicatricial alopecia is crucial to prevent permanent hair loss.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
66 citations,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
