Review Note
Last Update: 08/30/2023 12:42 AM
Current Deck: ACMS Study Guide Deck::A. Cancers
PublishedCurrently Published Content
Front
XP genetics, findings
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Group of autosomal recessive disorders of nucleotide excision repair
pathway
◦ Actinic keratoses, lentigos, sensorineural deafness, ectropion
◦ Cutaneous manifestations appear as early as 6 months with persistent
erythema, scaling, ephelides
◦ Risk of BCC, SCC, melanoma, fibrosarcoma is 1000-fold higher in
patients <20 years of age
◦ Also develop neurological complications (e.g. deafness, ataxia)
pathway
◦ Actinic keratoses, lentigos, sensorineural deafness, ectropion
◦ Cutaneous manifestations appear as early as 6 months with persistent
erythema, scaling, ephelides
◦ Risk of BCC, SCC, melanoma, fibrosarcoma is 1000-fold higher in
patients <20 years of age
◦ Also develop neurological complications (e.g. deafness, ataxia)
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