Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0043346 (xeroderma pigmentosum)
 2,924 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Five cases of xeroderma pigmentosum have been presented, three of the patients belonging to one family. There was no history of consanguineous marriages in this series. All five patients had advanced ocular complications. Three presented with multiple basal cell carcinomata, which were treated by radiotherapy in two cases and surgery in one. One patient presented with a dermatofibroma, which does not seem to have been reported earlier in association with this disease. Reconstructive techniques such as the use of flaps and grafts arc safe, and the healing response is quite satisfactory.
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PMID:Xeroderma Pigmentosum. 2926 71