The Proteus syndrome: the Elephant Man diagnosed.
Sir Frederick Treves first showed Joseph Merrick, the famous Elephant Man, to the Pathological Society of London in 1884. A diagnosis of neurofibromatosis was suggested in 1909 and was widely accepted. There is no evidence, however, of café au lait spots or histological proof of neurofibromas. It is also clear that Joseph Merrick's manifestations were much more bizarre than those commonly seen in neurofibromatosis. Evidence indicates that Merrick suffered from the Proteus syndrome and had the following features compatible with this diagnosis: macrocephaly; hyperostosis of the skull; hypertrophy of long bones; and thickened skin and subcutaneous tissues, particularly of the hands and feet, including plantar hyperplasia, lipomas, and other unspecified subcutaneous masses.
D000015:Abnormalities, Multiple / Q000266:history / Q000473:pathology*; D001842:Bone and Bones / Q000473:pathology; D002675:Child, Preschool; D004739:England; D005528:Foot / Q000473:pathology; D049672:History, 19th Century; D006801:Humans; D006965:Hyperplasia; D006984:Hypertrophy; D008068:Lipomatosis / Q000473:pathology; D008297:Male; D009456:Neurofibromatosis 1 / Q000266:history*; D012878:Skin Neoplasms / Q000266:history*; D013577:Syndrome