I'm Seeing Spots: Xeroderma Pigmentosum Presenting As Ocular Surface Disease And Neoplasms Of The Eyes, Face, And Body
Published 2024 - 42nd Congress of the ESCRS
Reference: PO905 | Type: Poster | DOI: 10.82333/x5v0-w213
Authors: Jonathan Paul Lacanilao* 1 , Enrique Luis Fontanilla 1 , Ruben Lim Bon Siong 2
1Department of Ophthalmology and Visual Sciences,University of the Philippines Manila - Philippine General Hospital,Manila,Philippines, 2Department of Ophthalmology and Visual Sciences,University of the Philippines Manila - Philippine General Hospital,Manila,Philippines;Eye Institute,St. Luke's Medical Center - Quezon City,Quezon City,Philippines;Eye Institute,St. Luke's Medical Center - Global City,Taguig City,Philippines
Purpose
Xeroderma pigmentosum is a rare genetic disorder affecting normal DNA repair that renders patients extremely sensitive to sunlight and ultraviolet (UV) exposure. They are characterized with blistering sunburns and a 2000-fold increased risk of life-threatening cutaneous and ocular malignancies. The purpose of this paper is to present a rare case of Xeroderma Pigmentosum presenting as multiple cutaneous malignancies of the face, periorbita, and back.
Setting
A 28 year-old Filipino male farmer presented with a 20-year history of multiple brown macules that evolved to dark blue-grey lesions on the face after sun exposure.
Methods
Three years prior, he noted a solitary, indolent, nontender, well-defined, dark brown to black nodule on the left lower eyelid extending to the palpebral conjunctiva, associated with bleeding on manipulation, blurring of vision, photophobia, foul discharge, matting of the eyelids, foreign body sensation, and conjunctival hyperemia. There was also note of corneal haze, deep stromal neovascularization, and calcified plaques in both eyes that likely developed from chronic inflammation to the proteinaceous discharge from the lid mass.
Results
Multiple punch biopsies of different lesions showed Basal Cell Carcinomas on the frontal, nasal, buccal, periorbital and perioral surfaces of the face, right forearm, and upper back. Wide excision of a mass on the left lower back showed a superficial spreading melanoma with positive margins. He is currently on frequent artificial tears and antibiotic ointment to prevent secondary infections and was advised genetic testing, UV protection, avoidance of sun exposure while awaiting definitive management but patient however was lost to follow up.
Conclusions
Development of multiple multi-colored macules on periorbita, face and body should bring a suspicion of a systemic condition such as Xeroderma Pigmentosum that predisposes to cutaneous malignancies. Early detection and genetic testing is key to as compliance UV protective measures can allow such patients to have a relatively normal lifespan and lead fulfilling lives.