Problem
Neurofibromatosis
Other Names:
Elephant Man's diseaseVon Recklinghausen disease
Nature:
Neurofibromatosis is an autosomal dominant disorder characterized particularly by cafe-au-lait spots and fibromatous tumors of the skin.
Background:
Although the Elephant Man, Joseph Merrick, has often been thought to have had von Recklinghausen disease, it has been suggested that Proteus syndrome is a more likely diagnosis.
Incidence:
The disease afflicts about 1.5 million people worldwide, of which some 100,000 are in the USA.
Broader Problems:
Genetic defects and diseasesCongenital anomalies of nervous system Related Problems:
Sotos syndromeProteus syndrome Aggravates:
FrecklesHypertensionOptic neuromaHypoglycaemiaAcoustic neuromaMental deficiencyCurvature of spineUnsightly skin blemishes Values:
Disease References:
Riccardi, Vincent M and Eichner, June E: Neurofibromatosis: phenotype, natural history, and pathogenesis Subject(s):
Birds, Mammals → MammalsMankind → Mankind
Medicine → Nervous system
Medicine → Pathology
Related UN Sustainable Development Goals:
Problem Type:
E: Emanations of other problems Date of last update
23.04.2019 – 11:22 CEST