Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Department of Genetics, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.
Pediatr Dermatol. 2021 Jul;38(4):919-925. doi: 10.1111/pde.14636. Epub 2021 May 26.
We report a 6-year-old female with linear skin hyperpigmentation on the axillae and groin, intellectual disability, dysplastic teeth and nails, and facial dysmorphism who was diagnosed with a novel PHF6 pathogenic splicing variant. Males with PHF6 mutations have been associated with the X-linked recessive disorder Börjeson-Forssman-Lehmann, but females have a distinct phenotype which is likely modulated by X-inactivation.
我们报告了一例 6 岁女性，其腋窝和腹股沟处有线性皮肤色素沉着、智力障碍、牙齿和指甲发育不良以及面部畸形，该患者被诊断为一种新型 PHF6 致病性剪接变异体。携带 PHF6 突变的男性与 X 连锁隐性遗传疾病 Börjeson-Forssman-Lehmann 有关，但女性具有独特的表型，这可能受 X 染色体失活的调节。
