RESUMO
Pseudoxanthoma elasticum(PXE) is a rare, genetic, metabolic disease characterized by ectopic calcification of connective tissue that primarily affects the skin, retina and cardiovascular system, which characteristic histopathology is calcification and fragmentation of elastic fibers in dermis.PXE is mainly caused by ABCC6 gene mutation, which is one of the important regulators of the serum inorganic pyrophosphate (PPi) homoeostasis, a main inhibitor of ectopic calcification and the deficiency of PPi can lead to ectopic calcification. The clinical features are highly heterogeneous.Typical skin lesions of PXE are yellowish flat papules and plaques, and the symptoms of skin relaxation and shrinkage can be manifested in the later stage.Retina, cardiovascular and other complications seriously affect the health and quality of life of patients. The current therapy of PXE include symptom improvement, systemic anti-ectopic calcification medicine, gene therapy and so on.We review the pathogenesis, clinical manifestations, diagnosis and treatment of PXE.
RESUMO
El pseudoxantoma elástico o síndrome de Gröenblad-Strandberg, es una rara enfermedad multisistémica hereditaria, que se caracteriza por la mineralización ectópica de los tejidos conectivos y se manifiesta clínicamente mediante: lesiones cutáneas, oftalmológicas y vasculares. Está producido por mutaciones en el gen ABCC6 localizado en el cromosoma 16p13.1, que se expresa primariamente en el hígado, los riñones y en niveles muy bajos en los tejidos afectados clínicamente. Se han descrito más de 600 mutaciones, siendo p.R1141X y del23-29 las dos más frecuentes. Actualmente, no existe un tratamiento específico para el pseudoxantoma elástico, por lo que el diagnóstico precoz, el control multidisciplinario y las modificaciones en el estilo de vida, son importantes para disminuir su morbimortalidad. En este trabajo se presenta un caso de pseudoxantoma elástico, con compromiso cutáneo y ocular y se realiza una revisión de la literatura.
Pseudoxanthoma elasticum, also known as Groënblad-Strandberg syndrome, is a rare multi-system heritable disorder characterized by ectopic mineralization of connective tissues with clinical manifestations in the skin, eyes and vascular system. It is caused by mutations in the ABCC6 gene located in chromosome 16p13.1, which is expressed primarily in the liver and the kidney, and at very low level in tissues clinically affected. Over 600 distinct mutations have been identified so far, pR1141X and del23-29 are the most common ones. To date, there is no specific treatment for pseudoxanthoma elasticum, therefore early diagnosis, multidisciplinary control and lifestyle adjustments are very important to reduce its morbidity and mortality. A case of pseudoxanthoma elasticum in a patient with cutaneous and ocular involvement is presented along with a review of the available literature.
RESUMO
Pseudoxanthoma elasticum (PXE) is a heritable disorder of elastic tissue and it has many systemic manifestations. PXE is a systemic disorder that most markedly affects the elastic tissues in the skin, retina and blood vessels. Defects in the ABCC6 gene lead to calcification of elastic tissue. We herein report on two cases of pseudoxanthoma elasticum that presented with focal involvement on the skin of the neck without marked wrinkling.