Neurofibromatosis (NF) is the term used to describe a group of genetic disorders primarily affecting the cell growth of neural tissues
- Neurofibromatosis type 1 (NF1) is a neurodermal dysplasia, previously known as von Recklinghausen disease. It accounts for 90% of cases, has a prevalence of one case in 3,000 births, and is the most common type of NF
- NF1 is an autosomal dominant disease associated with mutations affecting the NF1 gene on the 17q11.2 chromosome.
- The expressivity of the disease is extremely variable, with wide ranging clinical manifestations including:
- Café-au-lait spots, axillary/inguinal freckling, optic glioma, Lisch nodules (pigmented hamartomas of the iris), spinal and peripheral nerve neurofibromas, neurological or cognitive impairment, scoliosis, pheochromocytoma, vasculopathy, and specific bone lesions.
1849 – Robert William Smith (1807-1873) published a monograph ‘A Treatise on the Pathology, Diagnosis and Treatment of Neuroma‘ containing an extensive review of the literature as well as his own observations. The book included a full description of generalized neurofibromatosis, including a description of von Recklinghausen syndrome (neurofibromatosis Type I)
1882 – Recklinghausen provided a detailed description was of the autopsy findings in a female aged 55 years and a male aged 47 years.
- Neurofibromatosis type 1 (NF-1)
- von Recklinghausen’s disease
- Recklinghausen’s disease
- Akenside M. Observations on cancers. Medical Transactions. Royal College of Physicians of London. 1768;1:64-92
- Smith RW. A treatise on the pathology, diagnosis and treatment of neuroma. 1849. [Re=print: Clin Orthop Relat Res. 1989;(245):3-9. PMID2502348]
- Recklinghausen F. Über die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen. Berlin: Hirschwald. 1882.
- Ghalayani P, Saberi Z, Sardari F. Neurofibromatosis type I (von Recklinghausen’s disease): A family case report and literature review. Dent Res J (Isfahan). 2012 Jul;9(4):483-8. [PMID 23162593]