University of Minnesota Medical School, Minneapolis, Minnesota, USA.
Department of Dermatology, University of Minnesota, Minneapolis, Minnesota, USA.
Pediatr Dermatol. 2022 Jul;39(4):609-612. doi: 10.1111/pde.15007. Epub 2022 May 6.
Two siblings presented with sun sensitivity and progressive dyspigmentation. A diagnosis of xeroderma pigmentosum was initially favored due to XPC mutations, although variants were not clearly diagnostic. However, new moderate neutropenia and homozygous suspected pathogenic variants in USB1 led to diagnosis of poikiloderma with neutropenia. This case highlights the importance of reevaluation of diagnosis due to significant phenotypic overlap in congenital disorders of photosensitivity with poikiloderma or dyspigmentation.
两名兄弟姐妹表现出光敏感和进行性色素减退。由于 XPC 突变，最初倾向于诊断为着色性干皮病，尽管变异并不明确。然而，新出现的中度中性粒细胞减少和 USB1 中的纯合疑似致病性变异导致了中性粒细胞减少性斑驳病的诊断。该病例强调了由于光敏感的先天性疾病与斑驳病或色素减退的表型重叠显著，因此需要重新评估诊断的重要性。
