A Case of Xeroderma Pigmentosum Variant Type With a Novel Mutation Diagnosed in Early Childhood

Photodermatol Photoimmunol Photomed. 2025 Jan;41(1):e70000. doi: 10.1111/phpp.70000.

Authors

Makiko Okuwa¹, Mariko Tsujimoto¹, Eiji Nakano¹, Ryusuke Ono¹, Taro Masaki¹, Kazuyoshi Fukai^{2

3}, Chikako Nishigori^{1

4}

Affiliations

¹ Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
² Department of Dermatology, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
³ Department of Dermatology, Baba Memorial Hospital, Osaka, Japan.
⁴ Hyogo Red Cross Blood Center, Kobe, Japan.

PMID: 39673222
DOI: 10.1111/phpp.70000

No abstract available

Keywords: POLH; XP‐V; polymerase η; xeroderma pigmentosum.