Abstract：
Deep dermatophytosis is an invasive and sometimes life-threatening fungal infection mainly reported in immunocompromised patients. However, a caspase recruitment domain-containing protein 9 (CARD9) deficiency has recently been reported to cause deep dermatophytosis. Herein, we report the first Japanese case of deep dermatophytosis associated with CARD9 deficiency. An 80-year-old Japanese man with tinea corporis presented with subcutaneous nodules on his left sole. Histopathological findings revealed marked epithelioid cell granulomas with filamentous fungal structures in the deep dermis and subcutis, and the patient was diagnosed with deep dermatophytosis. Despite antifungal therapy, the subcutaneous nodule on his left sole gradually enlarged, his left calcaneal bone was invaded, and the patient finally underwent amputation of his left leg. Genetic analysis revealed a homozygous CARD9 c.586 A > G (p. Lys196Glu) variant, suggesting a CARD9 deficiency. Here, we discuss the clinical features of CARD9 deficiency-associated deep dermatophytosis with a case report and review of the literature.
摘要：
深部皮肤癣菌病是一种侵袭性，有时危及生命的真菌感染，主要在免疫功能低下的患者中报道。然而,最近有报道称,含有caspase募集结构域的蛋白9(CARD9)缺乏可导致深部皮肤癣菌病.在这里，我们报道了日本首例与CARD9缺乏相关的深部皮肤癣菌病。一名80岁的日本男子患有体癣，其左鞋底上有皮下结节。组织病理学发现，真皮深部和皮下组织有明显的上皮样细胞肉芽肿伴丝状真菌结构，患者被诊断为深部皮肤癣菌病。尽管有抗真菌治疗,他左鞋底的皮下结节逐渐扩大，他的左跟骨被侵入,病人最后做了左腿截肢手术.遗传分析显示纯合CARD9c.586A>G（p。Lys196Glu）变体，提示CARD9缺陷。这里,我们通过一例病例报告和文献复习讨论了CARD9缺乏相关深部皮肤癣菌病的临床特征。
