Management of coexisting bilateral ocular surface disease in xeroderma pigmentosum - sequence and outcomes

Abstract

Purpose To report a rare presentation of bilateral, coexisting ocular surface disease in a case of Xeroderma pigmentosum and its successful management. Methods Case report. Results A 21-year-old male with Xeroderma pigmentosum presented with bilateral ocular surface squamous neoplasia (OSSN) along with central guttae in the right eye and corneal decompensation of the left eye. Subsequently, the patient developed dry eyes and lid margin keratinization in both eyes followed by perforation in the left eye. Sequential procedures both medical and surgical, including excision of the tumour, corneal transplantation and mucous membrane grafting addressing each of these ocular surface issues resulted in a successful outcome. There was no recurrence of the tumour over 3 years. Corneal transplantation is preferably done after a minimum of 6 months following excision. Mucous membrane grafting performed for progressive lid margin keratinization resulted in surface stabilization. Conclusions In Xeroderma Pigmentosum, multiple ocular surface features can rarely coexist and be bilateral. Periodic evaluation of the surface for tumours, progressive dry eyes and endothelial function is recommended as a part of routine evaluation in Xeroderma pigmentosum. Surface procedures should precede intraocular intervention. Sequential management can result in successful outcomes.

Photodermatoses: what's new

“…A study of ocular pathology in 209 patients with xeroderma pigmentosum found that the most common ocular complaints were photophobia, discomfort, defective vision, redness, tissue growth, white spots, and pain, and almost half of the patients had corneal scars at presentation [38]. A recent report describes a patient with xeroderma pigmentosum diagnosed with bilateral ocular surface squamous neoplasia who underwent successful tumor excision, corneal transplantation and mucous membrane grafting [39]. Finally, Saleh and Elansary describe a novel case of an oral angiokeratoma in a patient with xeroderma pigmentosum [40].…”