Further diagnostic thoughts about the Elephant Man.Am J Med Genet. 1988 Apr; 29(4):777-82.AJ
Further evidence for a diagnosis of the Elephant Man's condition is reviewed. It is known that the Elephant Man had "mocassin" lesions, hyperostoses of the skull, and absence of café-au-lait spots, all of which are characteristic of Proteus syndrome. Recently, questions have been raised about his skeletal findings and their relevance to neurofibromatosis. However, other skeletal diagnoses have been entertained, including Maffucci syndrome, Paget's disease of bone, pyarthrosis, and fibrous dysplasia. These diagnostic possibilities are discussed and evaluated critically. It is concluded that the skeletal findings are most consistent with Proteus syndrome and coincidental hip disease secondary to childhood trauma.