title: Epibulbar squamous cell carcinomas in brothers with Xeroderma pigmentosa.
abstract: We report two brothers aged 6.6 and 5 years old with the De Sanctis-Cacchione variant of Xeroderma Pigmentosa. They had typically severe skin, and ocular and neurologic involvement. Both had epibulbar squamous cell carcinomas. The oldest presented with a large, invasive, epibulbar mass of the left eye which required enucleation. He also had an invasive squamous cell carcinoma of the right lower lid. The younger brother presented with a smaller papillomatous lesion at the medial limbus of the right eye. After removal, this was found to be squamous cell carcinoma in-situ. Flow cytometry done on the tumors revealed diploidy. The case descriptions, histopathology, and discussion of ocular manifestations are presented.
authors.affiliation: Department of Ophthalmology, Children's Hospital of Philadelphia, Pa 19104-4399.
authors.forename: R W
authors.initials: RW
authors.lastname: Hertle
authors.forename: F
authors.initials: F
authors.lastname: Durso
authors.forename: J P
authors.initials: JP
authors.lastname: Metzler
authors.forename: E W
authors.initials: EW
authors.lastname: Varsa
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003230:Conjunctival Neoplasms / Q000235:genetics* / Q000473:pathology; D005142:Eyelid Neoplasms / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D014983:Xeroderma Pigmentosum / Q000235:genetics* / Q000473:pathology