Pseudoxanthoma elasticum - rare hereditary disease with coronary and organ calcifications (RCD code: I-2.A.0)
Background: Pseudoxanthoma elasticum is a rare hereditary disease with estimated prevalence of 1 in 25,000 to 1 in 100,000 with cutaneous lesions and organ calcifications.
Methods and results: We report a case of a young female with a cutaneous manifestation of pseudoxanthoma elasticum. Calcium deposits were found in coronary arteries and major vessels as well as in the lung and liver by means of computer tomography (CT) assessment. No members of the family were found to have the disease, so it was considered a sporadic case.
Conclusion: Exceeding rare this cutaneous disease is associated with organ and vessels calcifications and is worth knowing as a rare cause for calcium depositions in the coronary arteries and potential myocardial ischemia or myocardial infarction in the very young. JRCD 2013; 1 (2): 42–45Key words: pseudoxanthoma elasticum, coronary artery calcifications, cutaneous lesions, organ calcifications
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