An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery.

BACKGROUND

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genodermatosis with follicular hyperkeratosis, non-scarring alopecia, and ocular abnormalities. Female cases are very uncommon and typically manifest with a milder phenotype, though severe presentations can occur. Orthopedic complications are not commonly described in IFAP.

CASE PRESENTATION: We present a 10-year-old girl with congenital alopecia and diffuse follicular hyperkeratosis who, despite lacking photophobia, progressed to develop flexion contractures of the knees and equinus deformities of the ankles, resulting in marked restriction of mobility. Ophthalmological examination demonstrated mild astigmatism and decreased visual acuity without corneal disease. Skin biopsy histopathology demonstrated orthokeratotic hyperkeratosis, acanthosis, and follicular plugging, which was in line with IFAP syndrome. The patient underwent posterior soft tissue release of the knees and Achilles tendon lengthening, which led to marked postoperative functional improvement in ambulation.

CONCLUSION

This case expands the phenotypic range of IFAP syndrome by describing a non-classical female presentation with no photophobia but with extreme musculoskeletal contractures requiring surgery. It emphasizes the need for early identification and multidisciplinary treatment, such as orthopedic intervention, to avert long-term disability and enhance the quality of life.