[Urologic findings in pseudoxanthoma elasticum: report one case]. / Manifestaciones urológicas del pseudoxantoma elástico: a propósito de un caso.

CASE REPORT: A 21-year-old woman presented with retinal angioid streaks and yellowish streak skin abnormalities in neck and axillary folds. Skin biopsy showed bluish-gray tangled masses of calcified elastic fibers in the mid- to lower dermis suggestive of Pseudoxanthoma elasticum (PXE). She consulted in Urology Department for lower urinary tract infection. Renal ultrasonography revealed multiple highly reflective foci in the corticomedullary junction. COMMENT: Pseudoxanthoma elasticum is a rare genetic disorder characterised by fragmentation and calcification of elastic fibers in the skin and media of arteries. Frequent manifestations include hypertension, angina pectoris, transient cerebral ischemic attacks, intermittent claudication, upper gastrointestinal bleeding, retinal angioid streaks and thickened skin. A characteristic appearance of highly reflective foci in the renal parenchyma have been reported in patients with PXE, but it's not specific for this syndrome. However, the presence of this structural pattern in a young patient with dermatological abnormalities should lead to the consideration of PXE in the differential diagnosis list. Besides ultrasonography findings, only a ureteral disruption case in a patient underwent ureteroscopic manipulation has been described to our knowledge. In our case, the true significance of these disease in recurrent urinary tract infection is uncertain.

Manifestaciones urológicas del pseudoxantoma elástico: a propósito de un caso / Urologic findings in pseudoxanthoma elasticum: report one case

Caso clínico: Mujer de 21 años con estrías angioides retinianas y estrías cutáneas en axilas y cuello. Tras biopsia cutánea con calcificaciones en las fibras elásticas de dermis, fue diagnosticada de Pseudoxantoma elástico. Remitida al Servicio de Urología por infección del tracto urinario inferior, en estudio ecográfico renal presentó múltiples focos hiperecogénicos de pequeño tamaño en la unión córtico-medular. Comentarios: El Pseudoxantoma elástico es una rara enfermedad genética que se caracteriza por la fragmentación y calcificación de las fibras elásticas de la piel y arterias. Las manifestaciones clínicas incluyen hipertensión, angor pectoris, ictus, claudicación intermitente, hemorragia digestiva alta, estrías angioides retinianas y estrías cutáneas. La ecografía se caracteriza por la presencia de múltiples focos hiperecogénicos a nivel del parénquima renal, pero este hallazgo no es específico del Pseudoxantoma elástico. Sin embargo, la presencia de este patrón ultrasonográfico en pacientes jóvenes con anomalías dermatológicas debe hacernos pensar en este síndrome dentro de las diferentes posibilidades diagnósticas. Aparte de los hallazgos ecográficos descritos, sólo una lesión ureteral en una paciente sometida a ureteroscopia ha sido descrita en relación al ámbito urológico de este síndrome. En nuestro caso, la relación entre esta enfermedad y la presencia de infección urinaria recurrente no esta clara

Case report: A 21-year-old woman presented with retinal angioid streaks and yellowish streak skin abnormalities in neck and axillary folds. Skin biopsy showed bluish-gray tangled masses of calcified elastic fibers in the mid-to lower dermis suggestive of Pseudoxanthoma elasticum (PXE). She consulted in Urology Department for lower urinary tract infection. Renal ultrasonography revealed multiple highly reflective foci in the corticomedullary junction. Comment: Pseudoxanthoma elasticum is a rare genetic disorder characterised by fragmentation and calcification of elastic fibers in the skin and media of arteries. Frequent manifestations include hypertension, angina pectoris, transient cerebral ischemic attacks, intermittent claudication, upper gastrointestinal bledding, retinal angioid streaks and thickened skin. A characteristic appearance of highly reflective foci in the renal parenchyma have been reported in patients with PXE, but it’s not specific for this syndrome. However, the presence of this structural pattern in a young patient with dermatological abnormalities should lead to the consideration of PXE in the differential diagnosis list. Besides ultrasonography findings, only a ureteral disruption case in a patient underwent ureteroscopic manipulation has been described to our knowledge. In our case, the true significance of these disease in recurrent urinary tract infection is uncertain