Mititelu Roxana, Cheung Larry W, Sasseville Denis
Division of Dermatology, McGill University Health Center, Montreal, QC, Canada.
SAGE Open Med Case Rep. 2020 Sep 23;8:2050313X20953110. doi: 10.1177/2050313X20953110. eCollection 2020.
We report a unique case of a patient presenting with histologically confirmed pseudoxanthoma elasticum-like phenotype and cutaneous polyarteritis nodosa. Cardiac, gastroenterological, and ophthalmologic evaluations were within normal limits. Genetic evaluation was pertinent for absent ABCC6, ENPP1, and GGCX mutations and a normal array comparative genomic hybridization. Extensive workup revealed skin-limited cutaneous polyarteritis nodosa, and further genetic testing for ADA2 deficiency was negative. The cutaneous polyarteritis nodosa lesions had an excellent response to hydroxychloroquine and methotrexate. Pseudoxanthoma elasticum and polyarteritis nodosa are relatively uncommon, and our patient is among the first reported cases presenting with both pseudoxanthoma elasticum-like and polyarteritis nodosa. Furthermore, this case emphasizes the importance of a thorough cutaneous exam, as the patient had the lesions consistent with pseudoxanthoma elasticum-like since childhood and had previously gone undiagnosed.
我们报告了一例独特的病例，该患者表现出经组织学证实的弹性假黄瘤样表型和皮肤型结节性多动脉炎。心脏、胃肠和眼科评估均在正常范围内。基因评估显示ABCC6、ENPP1和GGCX基因无突变，且阵列比较基因组杂交结果正常。全面检查发现为皮肤局限性皮肤型结节性多动脉炎，进一步检测ADA2缺乏症为阴性。皮肤型结节性多动脉炎病变对羟氯喹和甲氨蝶呤反应良好。弹性假黄瘤和结节性多动脉炎相对不常见，我们的患者是首批同时出现弹性假黄瘤样和结节性多动脉炎的报告病例之一。此外，该病例强调了全面皮肤检查的重要性，因为该患者自童年起就有与弹性假黄瘤样一致的病变，之前一直未被诊断出来。
