Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Section of Pediatric Dermatology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Pediatr Dermatol. 2024 Jan-Feb;41(1):156-157. doi: 10.1111/pde.15437. Epub 2023 Sep 28.
A 6-year-old female with a history of Aicardi-Goutières syndrome (AGS) presented to dermatology clinic with hypopigmented and hyperpigmented macules and patches consistent with dyschromatosis symmetrica hereditaria (DSH). Previous genetic workup demonstrated a de novo, heterozygous mutation in the adenosine deaminase acting on RNA 1 (ADAR) gene. While the co-occurrence of AGS and DSH has previously been described in mutations of the ADAR gene, our case highlights the potential association between these disorders that may aid in earlier future diagnosis of AGS.
一位 6 岁的女性，患有 Aicardi-Goutières 综合征 (AGS)，因色素减退和色素沉着的斑片和斑块而到皮肤科诊所就诊，这些斑块和斑片符合遗传性对称性色素异常 (DSH)。先前的基因检测显示 ADAR 基因的新生杂合突变。虽然 ADAR 基因突变与 AGS 和 DSH 的同时发生以前已有描述，但我们的病例突出了这些疾病之间的潜在关联，这可能有助于更早期的 AGS 诊断。
