ABSTRACT
Abstract Plexiform neurofibromas are benign tumors originating from peripheral nerve sheaths, generally associated with Neurofibromatosis Type 1 (NF1). They are diffuse, painful and sometimes locally invasive, generating cosmetic problems. This report discusses an adolescent patient who presented with an isolated, giant plexiform neurofibroma on her leg that was confused with a vascular lesion due to its clinical aspects. Once the diagnosis was confirmed by surgical biopsy, excision of the lesion was performed with improvement of the symptoms.
Subject(s)
Humans , Female , Adolescent , Skin Neoplasms/pathology , Vascular Diseases/pathology , Neurofibroma, Plexiform/pathology , Skin Neoplasms/diagnostic imaging , Vascular Diseases/diagnostic imaging , Biopsy , Magnetic Resonance Imaging , Neurofibroma, Plexiform/diagnostic imaging , Diagnosis, Differential , Leg/blood supply , Leg/pathologyABSTRACT
Von Recklinghausen's disease orneurofibromatosis type 1 is a genetic disorder characterized by cutaneous lesions, skeletal malformations and some degree of mental impairment. It is common that neurofibromas appear, these are slow growing, benign tumours of the neural sheath. Plexiform neurofibromas are patognomonic ofNF 1. These are characterized by a late diagnosis when they compromise nerve function or when they have associated soft tissue deformity. They must be studied directly because they have a higher risk of malignant transformation. We present two patients that debuted with plexiform neurofibromas with a review of the literature on the subject.
La enfermedad de Von Recklinghausen o neurofibromatosis tipo 1 es una enfermedad genética caracterizada por lesiones cutáneas, malformaciones esqueléticas y algún grado de retraso mental. En el curso de la enfermedad la presencia de neurofibromas, tumores de la vaina nerviosa de comportamiento benigno y crecimiento lento es altamente probable, siendo los plexiformes patognomónicos de la enfermedad. Estos generalmente se diagnostican en estadios avanzados con compromiso de la función de los nervios involucrados o gran deformidad de partes blandas. Deben estudiarse de manera muy dirigida ya que tienen mayor riesgo de hacer una transformación maligna. Presentamos dos pacientes que debutaron con neurofibromas plexiformes, con una revisión de la literatura sobre el tema.