Department of Dermatology, Henry Ford Hospital, Detroit, Michigan.
Department of Dermatology, National Skin Centre, Singapore.
J Am Acad Dermatol. 2016 Nov;75(5):855-870. doi: 10.1016/j.jaad.2016.03.045.
Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies. This review will focus specifically on the syndromes with malignant potential, including xeroderma pigmentosum, Bloom syndrome, and Rothmund-Thomson syndrome. The typical phenotypic findings of each disorder will be examined and contrasted, including noncutaneous identifiers to aid in diagnosis. The management of these patients will also be discussed. At this time, the mainstay of therapy remains strict photoprotection; however, genetic therapies are under investigation.
遗传性光皮病是一系列罕见的光敏性疾病，通常由 DNA 修复途径的各种成分的遗传缺陷或功能障碍引起。这在临床上表现为极度光敏，许多综合征表现出皮肤恶性肿瘤的风险增加。本综述将特别关注具有恶性潜能的综合征，包括着色性干皮病、布卢姆综合征和 Rothmund-Thomson 综合征。将检查和对比每种疾病的典型表型发现，包括有助于诊断的非皮肤特征。还将讨论这些患者的治疗方法。目前，治疗的主要方法仍然是严格的光保护；然而，正在研究基因治疗。
