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Three school‐age cases of xeroderma pigmentosum variant type
Author(s) -
Ono Ryusuke,
Masaki Taro,
Takeuchi Seiji,
Shimizu Ayako,
Tanioka Miki,
Kambe Naotomo,
Matsue Hiroyuki,
Kamide Ryoichi,
Nishigori Chikako
Publication year - 2013
Publication title -
photodermatology, photoimmunology and photomedicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.736
H-Index - 60
eISSN - 1600-0781
pISSN - 0905-4383
DOI - 10.1111/phpp.12038
Subject(s) - xeroderma pigmentosum , genodermatosis , medicine , sunburn , dermatology , skin cancer , compound heterozygosity , exon , basal cell carcinoma , mutation , cancer , genetics , basal cell , pathology , gene , dna repair , biology
Summary Background Xeroderma pigmentosum ( XP ) is a photosensitive genodermatosis with increased susceptibility to skin cancers. Patients are typically diagnosed with XP when they consult a dermatologist for skin cancers. Case/Methods The genetic analysis and 2–8 years of follow‐up for three school‐age patients with XP ‐ V is described. The patients were referred to us because of increased pigmented freckles; they had not experienced abnormal sunburn or developed skin cancer at their first visit. All patients harbored a genetic mutation in the POLH gene. XPV9KO was diagnosed at age 13 with a homozygous del1661 A that creates a stop codon in the non‐catalytic domain of POLH . The patient practiced sun protection, effectively preventing the development of skin cancer by age 21. XPV19KO was diagnosed at age 11 with a compound heterozygous mutation of G490T and C1066T , causing POLH truncation in the catalytic domain. This patient developed basal cell carcinoma at ages 12 and 13. XPV18KO was referred to us at age 11 and diagnosed with compound heterozygous variants of c.1246_1311del66 (exon 9 skipping), a novel mutation, and c.661_764 del104 (exon 6 skipping). Conclusion Freckle‐like pigmentation on sun‐exposed skin is sometimes the only sign of XP ‐ V , and early diagnosis is extremely important for children.