Síndrome de Werner: a propósito de un caso probable / Werner's syndrome, about a probable case

Resumen: el síndrome de Werner es una patología poco frecuente, de herencia autosómica recesiva, caracterizado por signos de envejecimiento prematuro y tendencia a desarrollar tumores malignos. El diagnóstico de esta enfermedad es principalmente clínico, con hallazgos predominantes como talla baja y envejecimiento precoz. En este artículo se presenta el caso de un paciente de 49 años de edad, con signos tempranos de envejecimiento desde los 15 años y ateroesclerosis temprana asociada, que lo lleva a amputación quirúrgica de extremidad inferior derecha. De acuerdo con los criterios diagnósticos del síndrome de Werner este es el primer caso probable en el suroccidente colombiano. (AU)

Abstract: Werner syndrome is a rare, autosomal recessive pathology, characterized by signs of premature aging and tendency to develop malignant tumors. The diagnosis is principally clinical, with predominating findings as short stature and precocious aging. In this article, it's presented the case of a 49-year-old patient with early signs of aging from the age of 15 years and associated early atherosclerosis that leads to the right lower limb surgical amputation. According to the diagnostic criteria of Werner syndrome, this is the first probable case in the Colombian Southwest. (AU)

A case of Werner Syndrome Complicated by Bone Metastasis of Rhabdomyosarcoma

Werner syndrome (WRN), or adult progeria, is a very rare, autosomal recessive disorder characterized by the appearance of accelerated aging, including cataracts, gray hair, skin atrophy, and atherosclerosis. This syndrome is caused by mutations in the WRN gene and had a high risk of a spectrum of rare neoplasms including: i) non-epithelial malignant or pre-malignant tumors/conditions, osteosarcomas and soft tissue sarcomas, malignant melanomas, myeloid leukemia and myelodysplastic syndrome; ii) an epithelial neoplasm, thyroid carcinoma, and iii) meningiomas. Recently, authors experienced a case of Werner syndrome complicated by bone metastasis of rhabdomyosarcoma in a 20-year old Korean man. The patient revealed a painful mass on his right knee and progeroid features, short stature, scalp alopecia, abnormal dentition, craniofacial disproportion, hypothyroidsm, cataracts and osteoporosis. The onset of symptoms of Werner syndrome generally precedes any later symptoms of associated conditions, such as malignant tumor. Therefore, early recognition of Werner syndrome is important to assist identification of malignant tumors at an early stage in this patient group.