Early pseudoxanthoma elasticum with severe cardiovascular involvement.

Introduction. Pseudoxanthoma elasticum is a rare inherited connective disorder, characterized by elastic tissue degeneration. The onset of the symptoms usually occurs within the second decade of life. Case report. We describe the case of a 15 year-old boy, born to consangium parents, who presented characteristic cutaneous signs of pseudoxanthoma elasticum. The patient had also presented with severe cardiovascular involvement of early onset, at the age of 6 months. The latter included episodes of ischemic stroke, arterial hypertension, thrombosis of the left iliac and carotid arteries and cardiomegaly. His sister suffered from isolated cutaneous involvement. Diagnosis of pseudoxanthoma elasticum was confirmed on the histology of the skin and molecular analysis in our patient and in his sister revealed the same homozygote mutation. Discussion. The organs most commonly affected by pseudoxanthoma elasticum are the skin, eyes and vascular system. The cutaneous lesions are characteristic and usually appear around the age of 13. Ophthalmological involvement is frequent. Angioid bands ate the most typical lesions; the occur between the ages of 14 and 25. Survival depends on the vascular damage. Conversely to our case report, it usually appears later in life, during the third decade. Arterial hypertension and intestinal bleeding have also been described. The cardiac involvement in our patient is rare. This boy and his sister presented with the same homozygote mutation. Such a major intra-familial clinical variability emphasizes the hypothesis of the absence of any genotype-phenotype relationship in pseudoxanthoma elasticum.