Background: Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by hypersensitivity to ultraviolet light owing to mutation of nucleotide excision repair genes. Cutaneous and ocular malignancies commonly occur in the first decade of life in patients with xeroderma pigmentosum. Squamous cell carcinoma is the most common ocular malignancy in xeroderma pigmentosum. This case report aims to highlight that ocular malignancy can occur as early as the first few years of age in xeroderma pigmentosum, and the malignancies can progress rapidly unless early intervention is made.
Presentation of case: We present a case of a 3-year-old male child from Tigray, Ethiopia, who is born to consanguineous parents and presented with right eye swelling and photophobia of 1-month duration. On physical examination, there was a fungating, ulcerated mass over the right palpebral conjunctiva and dry lentigos, scaly skin with poikiloderma over his face, neck, hands, and leg. A clinical diagnosis of xeroderma pigmentosum was made on the basis of history and cutaneous manifestations, and histopathologic examination of the conjunctival mass confirmed squamous cell carcinoma with orbital soft tissue extension.
Conclusion: Ocular malignancies are disabling manifestations of xeroderma pigmentosum that usually occur in the first decade of life. Patients with xeroderma pigmentosum should be strongly advised on lifetime protection against ultraviolet light exposure, vitamin D supplementation, and frequent dermatologic and ophthalmologic examination to detect and treat early-stage malignancies. Delayed diagnosis of ocular malignancies may result in more aggressive management such as enucleation and exenteration.
Keywords: Case report; Conjunctiva; Photosensitivity; Squamous cell carcinoma; Xeroderma pigmentosum.
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