- Recklinghausen's phakomatosis
- Recklinhausen neurofibromatosis
- Recklinghausen syndrome
- von Recklinghausen neuropathy
- Elephant man's syndrome (misnomer)
- von Recklinghausen's disease
Inheritable disease characterized by spots of increased skin pigmentation (café au lait spots), combined with multiple, often soft, sessile peripheral nerve tumours and a variety of others dysplastic abnormalities of the skin, nervous system, bones, endocrine organs and blood vessels. The pigmented spots are most prominent over the trunk, in the axillae (axillary freckles), and about the pelvic. The peripheral nerve tumours are of two types, schwannomas and neurofibromas. Both types of tumour occasionally become malignant. They occur along peripheral nerves, where they are quite obvious, and on spinal and cranial nerve roots. Extremely variable in size, number, and shape.
Onset in childhood; becomes more active at puberty, during pregnancy, and at menopause. Asymptomatic or pain when tumor produces pressure on adjacent structure. Mental retardation, seizures, hydrocephalus, and other neurological complications are frequent. Eye involvement may result in proptosis, muscle palsies, phakoma, glaucoma, corneal opacity, and other ocular complications.
Its incidence is 1 per 3.000 births and present in about 30 persons per 10.000 population. It is inherited as an autosomal dominant trait, but about 50 percent of cases arise as mutations.
Reckilinghausen disease is now divided in two genetically different forms : NF1 and NF2, with different clinical features.
First described in 1768 by Mark Akenside (1721-1770), in 1793 by Wilhelm Gottlieb Tilesius von Tilenau (1769-1857), by professor Robert William Smith (1807-1873) of the University of Dublin in 1849, and Rudolf Virchow in 1863. Recklinghausen's detailed description was of the autopsy findings in a female aged 55 years and a male aged 47 years.
We thank Volker Paech M.D., and Claudio Crisci, for information submitted.
Elephant man, see under Sir Frederick Treves, English surgeon, 1853-1923.
- M. Akenside:
Observations on cancers.
Medical Transactions. Royal College of Physicians of London, 1768, 1: 64-92.
- W. G. Tilesius von Tilenau:
Historia pathologica singularis entis turpitudinus. Jo Godofredi Rheinhardi viri 50 Annorum.
SL Crusins, Leipzig, 1793.
- Robert W. Smith:
Pathology, Diagnosis and Treatment of Neuroma. 1849.
- R. Virchow:
Die krankhaften Geschwülste. 3 volumes, Berlin, 1863-1867.
- F. D. von Recklinghausen:
Ueber die multiplen Fibrome der Haut und ihre Beziehung zu den multiplen Neuromen.
(On Multiple Fibromas in the Skin and their Relationship to Multiple Neuromas.)
Title page, translated from German: Festschrift in commemoration of the 25th anniversary of the founding of the Pathological Institute of Berlin, presented to Professor Rudolf Virchow by F. von Recklinghausen, professor in Strasbourg". Berlin, A. Hirschwald, 1882.