Presentation
Multiple skin nodules developing over the last three years. One has been biopsied. Pigmented areas noticed on examination.
Patient Data
Case Discussion
The nodule was confirmed to be a neurofibroma and the patient was subsequently diagnosed with neurofibromatosis type 1 (NF1), an autosomal dominant phakomatosis characterised by multiple skin nodules (neurofibromas) and pigmented patches (café au lait spots).
It was recognised as a distinct disorder when Friedrich Daniel von Recklinghausen published his landmark paper (in German) On the Multiple Fibromas of the Skin and Their Relationship to the Multiple Neuromas in 1882.
It is classified as a neurocristopathy; the pathogenesis relates to neural crest cell abnormalities, in particular to neural crest cells (NCCs) originating from the cranial and trunk portions of the neural crest. NCCs from these portions of the neural crest contribute to derived Schwann cells and melanocytes as well as other tissues; the tumours are of nerve sheath (Schwann cell) origin. The disorder has been linked to an abnormality of the NF1 gene, located on the long arm of chromosome 17 (17q11.2).
Patients may develop intracranial and intraspinal tumours and skin malignant tumours (melanoma and fibrosarcomas) as well as having skeletal, neurological and cardiovascular abnormalities.