Ichthyosis Follicularis with Alopecia and Photophobia (IFAP): Late Diagnosis in 18-Year-Old Man

The document described a case of an 18-year-old man diagnosed with Ichthyosis follicularis with alopecia and photophobia (IFAP) syndrome, a rare genetic disorder characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, generalized nonscarring alopecia, and a distinctive facial appearance. The patient exhibited complete hair loss, marked photophobia, and hyperkeratotic lesions since early childhood. Despite normal growth, development, and intelligence, he had a history of seizures and complete absence of sweating. The diagnosis was made based on clinical features, as the patient refused further genetic testing. IFAP syndrome's inheritance pattern remains unclear, with both autosomal dominant and X-linked possibilities suggested. Treatment options like urea-containing creams and oral retinoids showed limited success, particularly in managing alopecia and photophobia.