Xeroderma Pigmentosa(XP) is an autosomal recessive disorder caused by defect in DNA repair mechanism which is induced by ultra violet rays . These patients have multisystem involvement (skin, eye, neurological and oral lesions with recurrent malignancy.
Material and Method: It is a retrospective, observational study of 9 cases of xeroderma pigmentosa (XP) with ocular involvement. Presence of skin and ocular malignancy was the main feature. Skin malignancy diagnosed by histopathology showed squamous cell carcinoma of face, basal cell carcinoma of scalp and nose. Ocular malignancy diagnosed as squamous cell carcinoma and malignant melanoma. Cases with ocular malignancy presented with limbal nodule which was excised surgically along with application of intraoperative cyro and mitomycin C. Apart from ocular malignancy other ocular involvement was conjunctival melanosis and corneal scar. Impression cytology was done in all patients with ocular involvement.
Observation: XP was seen more commonly in boys with age group of 5-25 years. Incidence of malignancy was the main feature in these patients. 5 patients had skin and ocular malignancies. Skin malignancy was observed in 2 patients in form of squamous cell carcinoma and basal cell carcinoma while ocular malignancy was seen in 3 patients in the form of squamous cell carcinoma in 2 patients and malignant melanoma in 1 patient. Other ocular feature like conjunctival melanosis was present in 2 cases and corneal scar was seen in 2 patients. Follow up was done up to 6 months to note recurrence of ocular malignancy.
Conclusion: Early diagnosis of ocular malignancies is essential to plan treatment modality, which was done by impression cytology, accordingly mitomycin C and cryo was used to prevent recurrence.
Keywords: Cryo application, Hyperpigmentation of skin, Impression cytology, Ocular malignancy, Xeroderma pigmentosa