Year: 2019 | Month: January | Volume: 9 | Issue: 1 | Pages: 296-302
Xeroderma Pigmentosum with Ocular Squamous Cell Carcinoma- A Case Report
Dermatology and Venereology Department, Medical Faculty of Hasanuddin University, Wahidin Sudirohusodo Hospital, Makassar, Indonesia
Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatoses characterized by increased cellular photosensitivity to ultraviolet radiation and early onset of skin malignancy. XP may occur in any race or gender. This disease is usually acquired in infancy or childhood and is usually detected at the age of 1-2 years when sun exposure commonly starts. Clinically, the first abnormality found is extreme sensitivity to sunlight, abnormal lentigo can be found in areas exposed to sunlight. This is followed by an increase or decrease in pigmentation, aging of the skin and an increase in the incidence of skin cancer. A clinical diagnosis is confirmed by a cellular test to repair damaged DNA. We report a case of XP in a 2-year-old boy with clinical symptoms of lentiginous spots in the sun-exposed area, accompanied by Squamous Cell Carcinoma (SCC) in the eye based on histopathological examination. Multidisciplinary approach with the ophthalmology department was done to remove the SCC. The patient was given education about lifetime sun protection measurements and the importance of regular follow-up to detect the occurrence of new lesions or worsening of preexisting lesions.
Key words: Xeroderma pigmentosum (XP), Ocular squamous cell carcinoma, genodermatoses