RESUMEN
INTRODUCTION: Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with many systemic manifestations. We report 5 cases. OBSERVATIONS: The first patient presented cutaneous (yellowish grouped papules with reticulate pigmentation) and ocular manifestations (angioid streaks). The second patient is the sister of the first and presented the same clinical signs. The third is the mother of the two previous patients. The diagnosis of PXE was made on using a skin biopsy of healthy skin during family screening. The fourth patient presented yellow grouped papules with cutaneous hyper-elasticity and angioid streaks. The fifth patient presented essentially cardiovascular symptoms: arterial hypertension, total aortal dilation, arteriopathy and a cerebral vascular accident. DISCUSSION: Cutaneous manifestations are frequent (70 to 85%). Ocular signs are associated with the cutaneous signs in around 90% of PXE. The vascular lesions condition the vital prognosis. The gold standard of diagnosis is skin biopsy taken from damaged skin but it can also be positive even in normal skin (cases 3 and 5). Our series is characterised by the existence of unusual clinic manifestations of PXE: reticulated pigmentation and total aortal dilation. CONCLUSION: The PXE is a rare metabolic disease whose diagnosis is classically histopathological. Nowadays, molecular diagnosis is also possible.