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

1606Wilhelm 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]

1849Robert 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)

1882Recklinghausen provided a detailed description was of the autopsy findings in a female aged 55 years and a male aged 47 years.


Associated Persons


Alternative names

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

References


eponymictionary CTA 2

eponymictionary

medical etymology

Emergency physician MA (Oxon) MBChB (Edin) FACEM FFSEM with a passion for rugby; medical history; medical education; and informatics. Asynchronous learning #FOAMed evangelist. Co-founder and CTO of Life in the Fast lane | Eponyms | Books | vocortex |

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