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Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by abnormally accelerated photoaging skin symptoms for the patient's age caused by failure to repair DNA lesions damaged by ultraviolet radiation.1… Click to show full abstract
Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by abnormally accelerated photoaging skin symptoms for the patient's age caused by failure to repair DNA lesions damaged by ultraviolet radiation.1 Two sibling cases of Japanese XP-A patients display milder symptoms in those who harbor compound heterozygous mutation of IVS3-1G>C and c.682C>T, (p.R228X). We present a follow-up report on two patients, XP4KO and XP5KO, after a brief report from 25 years ago.2
Keywords:
findings clinical;
clinical features;
pigmentosum;
xeroderma pigmentosum;
autopsy findings;
features mild
Journal Title: JAAD Case Reports
Year Published: 2019
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Journal Title: JAAD Case Reports
Year Published: 2019
Link to full text (if available)
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recommendations!