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S. Tarigopula, J. Overlease, K. Desai; Unusual Presentation of Xeroderma Pigmentosum in African American Siblings. Invest. Ophthalmol. Vis. Sci. 2007;48(13):3597.
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To report cases of two African American siblings with Xeroderma Pigmentosum presenting with squamous cell carcinoma of the conjunctiva.
In two African American siblings diagnosed with Xeroderma Pigmentosum at the ages of 5 and 7, conjunctival biopsies revealed squamous cell carcinoma. Biopsy of one patient also showed atypical fibroxanthoma of the conjunctiva.
Squamous cell carcinoma is an associated ocular manifestation of Xeroderma Pigmentosum. Atypical fibroxanthoma, however, is an infrequently occuring pleomorphic tumor. This is the first known reported case of conjunctival atypical fibroxanthoma in an African American patient with Xeroderma Pigmentosum.
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