von Recklinghausen disease

Description

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.

History

1606 – Wilhelm Fabricius von Hilden early description of neurofibroma and Café-au-lait spots in Observationum et curationum chirurgicarum centuriæ Observatio XXVI: 105

1767 – Described physician and poet Mark Akenside (1721-1770) and published in 1768 [Medical Transactions 1768;1:64-92]

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.

Associated Persons

• Wilhelm Fabry (1560-1634)
• Mark Akenside (1721-1770)
• Robert William Smith (1807-1873)
• Friedrich Daniel von Recklinghausen (1833-1910)

Alternative names

• Neurofibromatosis type 1 (NF-1)
• von Recklinghausen’s disease
• Recklinghausen’s disease

References

• Fabricius Hildanus G. Observationum et curationum chirurgicarum centuriæ. 1606 Observatio XXVI: 105
• 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]