Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
J Pediatr Ophthalmol Strabismus
PMID:Epibulbar squamous cell carcinomas in brothers with Xeroderma pigmentosa. 175 63