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Cutaneous polyarteritis nodosa and concurrent pseudoxanthoma elasticum-like phenotype: A case report
Roxana Mititelu1, Larry W Cheung1, Denis Sasseville1
1Division of Dermatology, McGill University Health Center, Montreal, QC, Canada.
SAGE Open Medical Case Reports
|February 14, 2022
Summary
This case study details a patient with a pseudoxanthoma elasticum-like phenotype and cutaneous polyarteritis nodosa. Early diagnosis and treatment with hydroxychloroquine and methotrexate led to excellent outcomes.
Area of Science:
- Dermatology
- Genetics
- Rheumatology
Background:
- Pseudoxanthoma elasticum (PXE) and cutaneous polyarteritis nodosa (cPAN) are rare conditions.
- Co-occurrence of PXE-like phenotype and cPAN is exceptionally uncommon.
Observation:
- A patient presented with a lifelong history of skin lesions consistent with a pseudoxanthoma elasticum-like phenotype.
- The patient also developed painful skin nodules, diagnosed as cutaneous polyarteritis nodosa.
- Comprehensive evaluations ruled out systemic involvement and identified no mutations in common PXE-associated genes (ABCC6, ENPP1, GGCX) or ADA2 deficiency.
Findings:
- Histological confirmation of both pseudoxanthoma elasticum-like changes and cutaneous polyarteritis nodosa.
- Skin-limited presentation of cPAN.
- Positive therapeutic response of cPAN lesions to hydroxychloroquine and methotrexate.
Implications:
- Highlights the importance of thorough dermatological examination for diagnosing rare conditions.
- Suggests a potential, yet undefined, genetic or etiological link between PXE-like phenotypes and cPAN.
- Emphasizes the efficacy of hydroxychloroquine and methotrexate in managing skin-limited cPAN.
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