Open AccessAn adolescent case of xeroderma pigmentosum variant confirmed by the onset of sun exposure‐related skin cancer during Crohn's disease treatment
Author(s) -
Terada Aoi,
Aoshima Masahiro,
Tanizaki Hideaki,
Nakazawa Yuka,
Ogi Tomoo,
Tokura Yoshiki,
Moriwaki Shinichi
Publication year - 2018
Publication title -
journal of cutaneous immunology and allergy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.127
H-Index - 1
ISSN - 2574-4593
DOI - 10.1002/cia2.12011
Subject(s) - xeroderma pigmentosum , medicine , dermatology , skin cancer , azathioprine , mesalazine , disease , cancer , pathology , inflammatory bowel disease , dna repair , biology , gene , genetics
The patient was a 16‐year‐old boy who was diagnosed with Crohn's disease at 13 years of age, who was treated with mesalazine, azathioprine, and infliximab. Concurrently, the patient developed small freckle‐like pigmented spots on sun‐exposed areas, which gradually increased in number. At 14 and 16 years of age, a blue‐gray macule and a nodule appeared on his face, respectively. A histopathological examination revealed that the macule had only postinflammatory pigmentation, while the nodule was basal cell carcinoma. The sensitivity to UV ‐killing by colony formation of the patient's cells was normal but was enhanced by caffeine treatment. In addition, a pathologic mutation in the POLH gene was identified and a diagnosis of xeroderma pigmentosum variant ( XP ‐V) was established. XP ‐V is a cutaneous type of XP that is commonly diagnosed from middle age after the induction of skin cancer on sun‐exposed areas. Our patient had a genetically sensitive background ( XP ‐V), and we considered that immunosuppressive agents for Crohn's disease may have enhanced the photocarcinogenesis at a young age. This finding implies that we should be careful about a skin cancer production and that protection from UV may be essential when pediatric patients with a genetic background of UV sensitivity take immunosuppressive agents.