Juan Antonio Garcia-Rodriguez*
Department of Family Medicine, University of Calgary, CanadaFulltext PDF
A 42-year-old man consulted complaining of an irritated skin-colored nodule to the left side of his head that was identified as a neurofibroma. Numerous similar lesions were found to his torso and neck. He had no dysmorphic features or bone abnormalities, but he was found to have left axilla and right inguinal freckling, long soft-brown asymmetric skin patches of irregular borders on his torso that crossed the midline with no fullness under the skin. His left iris had some orange-brown colored specks. He had normal blood pressure and no neurological abnormalities. MRI of his body showed no plexiform neurofibromas. Nobody else in his family had similar findings. Based on his clinical findings, a diagnosis of a mosaic form of Neurofibromatosis type 1 (von Recklinghausen’s disease) was made, as a de novo mutation.
Garcia-Rodriguez JA. Von Recklinghausen′s Disease with a Typical Features. Ann Clin Case Rep. 2017; 2: 1414.