DOI: https://doi.org/10.36347/sjmcr.2026.v14i10.044

Pages: 2311-2313

Background: Severe, bilateral, recurrent, and treatment-resistant blepharitis with multiple chalazia in childhood may occasionally be a clue to an underlying inborn error of immunity. STAT1 gain-of-function (GOF) variants are a recognized cause of chronic mucocutaneous candidiasis and can be associated with a broader infectious and inflammatory phenotype. Case presentation: We describe the ophthalmic phenotype of a 10-year-old boy with genetically confirmed STAT1 GOF-associated chronic mucocutaneous candidiasis. His systemic history included recurrent oral candidiasis, chronic nail candidiasis, recurrent herpetic gingivostomatitis, previous mycobacterial lymphadenitis, cutaneous infections, folliculitis, and multiple recurrent chalazia. Ophthalmic examination demonstrated severe bilateral anterior and posterior blepharitis, with irregularity of the lid margins, telangiectatic vessels, inflammatory changes and recurrent chalazia. There was no corneal ulceration, corneal abscess, or other documented corneal involvement. Conventional ophthalmic treatment included topical corticosteroid drops and ointment, eyelid hygiene, warm compresses with eyelid massage, and artificial tears, without satisfactory control of the recurrent inflammatory eyelid disease. Conclusion: Severe refractory bilateral blepharitis with recurrent chalazia may represent an under-recognized ophthalmic manifestation in children with STAT1 GOF-associated chronic mucocutaneous candidiasis. An atypical, recurrent, or treatment-resistant eyelid phenotype, particularly when accompanied by recurrent mucocutaneous infections, should prompt consideration of an underlying inborn error of immunity.