Cutaneous polyarteritis nodosa and concurrent pseudoxanthoma elasticum–like phenotype: A case report. (September 2020)

• Record Type: Journal Article
• Authors: Mititelu, Roxana; Cheung, Larry W; Sasseville, Denis
• Is Part Of: SAGE open medical case reports. Volume 8(2020)
• Publication Date: 2020-09
• Subjects: Cutaneous polyarteritis nodosa -- pseudoxanthoma elasticum–like phenotype -- methotrexate -- hydroxychloroquine; Clinical medicine -- Case studies -- Periodicals; 616.09
• DOI: 10.1177/2050313X20953110
• Languages: English
• ISSNs: 2050-313X

Abstract

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.