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Limbal Stem Cell Dysfunction in Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome
Alfred Basilious1, Simon S M Fung1,2,3, Asim Ali1,2
1Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.
Insights
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome can cause limbal stem cell dysfunction, leading to corneal issues. Early management with lubrication and tarsorrhaphy can help maintain the ocular surface in affected children.
Area of Science:
- Ophthalmology
- Genetics
- Dermatology
Background:
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare genetic disorder.
- It is associated with mutations in the MBTPS2 gene.
- Ocular manifestations can be severe and progressive.
Observation:
- A case report of a male infant diagnosed with IFAP syndrome.
- The infant presented with hyperkeratotic eyelids, madarosis, and lagophthalmos.
- Developed spontaneous bilateral central corneal epithelial defects at 6 months of age.
Findings:
- The patient exhibited limbal thickening, peripheral corneal pannus, and stromal scarring.
- Anterior segment optical coherence tomography revealed abnormal epithelial surface and thinned corneal stroma.
- Findings were suggestive of limbal stem cell dysfunction.
Implications:
- Progressive conjunctivalization and epithelial defects indicate limbal stem cell dysfunction in IFAP syndrome.
- Aggressive lubrication and tarsorrhaphy helped stabilize the corneal surface.
- Optimizing ocular surface care is crucial for managing children with IFAP syndrome.
Purpose:
To describe the presentation and management of limbal stem cell dysfunction in ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
Methods:
A retrospective case report.
Results:
A 6-day-old male infant was diagnosed with IFAP syndrome based on family history and a mutation detected in the MBTPS2 gene. Initial examination showed hyperkeratotic eyelids, madarosis, and lagophthalmos, but otherwise clear corneas. He developed bilateral central corneal epithelial defects spontaneously 6 months later, which were managed with aggressive lubrication, prophylactic antibiotics, and bilateral permanent lateral tarsorrhaphies at 7 months of age. During the procedure, the patient was noted to have bilateral limbal thickening, peripheral corneal pannus with underlying stromal scarring, and late fluorescein staining of the corneal surface. Anterior segment optical coherence tomography demonstrated a significantly abnormal and hyperreflective epithelial surface overlying a thinned corneal stroma, suggestive of limbal stem cell dysfunction. The corneal surface was maintained with lubrication and tarsorrhaphy and has remained stable since.
Conclusions:
The progressive conjunctivalization, spontaneous epithelial defects, and anterior segment optical coherence tomography features are highly suggestive of limbal stem cell dysfunction in IFAP syndrome. Optimizing the ocular surface is of importance in the management of children with this rare disease.
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