Poblete-Gutiérrez P, Burgdorf W H C, Has C, Berneburg M, Frank J
Department of Dermatology, University Hospital, Academische Zuikenhuis Maastricht, P. Debyelaan 25, 6202 AZ Maastricht.
Hautarzt. 2006 Dec;57(12):1067-82. doi: 10.1007/s00105-006-1233-5.
Hereditary photodermatoses are characterized by an increased photosensitivity caused by an inherited single gene defect. With few exceptions, they manifest in early childhood, reveal heterogeneous clinical symptoms, and are difficult to treat. Although these diseases are rare, it is very important to make an accurate diagnosis on the basis of clinical symptoms, specific diagnostic tests, and direct DNA analysis. We review the spectrum of inherited photodermatoses, including porphyria cutanea tarda, erythropoietic protoporphyria, actinic prurigo, Kindler syndrome, and disorders associated with a defect in DNA repair, including xeroderma pigmentosum, trichothiodystrophy, Cockayne syndrome, and Bloom syndrome. Early diagnosis may prevent complications associated with prolonged unprotected exposure to sunlight and makes it possible to offer genetic counseling and, when indicated, prenatal diagnosis to families at risk for these rare heritable disorders.
遗传性光皮肤病的特征是由遗传性单基因缺陷导致的光敏感性增加。除少数例外情况外，它们在儿童早期出现，表现出异质性临床症状，且难以治疗。尽管这些疾病罕见，但基于临床症状、特定诊断测试和直接DNA分析进行准确诊断非常重要。我们综述了遗传性光皮肤病的范围，包括迟发性皮肤卟啉症、红细胞生成性原卟啉症、光化性瘙痒症、Kindler综合征，以及与DNA修复缺陷相关的疾病，包括着色性干皮病、毛发硫营养不良、科凯恩综合征和布卢姆综合征。早期诊断可预防因长期无保护暴露于阳光下而产生的并发症，并能够为这些罕见遗传性疾病的高危家庭提供遗传咨询以及在适当时提供产前诊断。
