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Further diagnostic thoughts about the Elephant Man.
Am J Med Genet. 1988 Apr; 29(4):777-82.AJ

Abstract

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.

Authors+Show Affiliations

Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.

Pub Type(s)

Historical Article
Journal Article

Language

eng

PubMed ID

3135754

Citation

Cohen, M M.. "Further Diagnostic Thoughts About the Elephant Man." American Journal of Medical Genetics, vol. 29, no. 4, 1988, pp. 777-82.
Cohen MM. Further diagnostic thoughts about the Elephant Man. Am J Med Genet. 1988;29(4):777-82.
Cohen, M. M. (1988). Further diagnostic thoughts about the Elephant Man. American Journal of Medical Genetics, 29(4), 777-82.
Cohen MM. Further Diagnostic Thoughts About the Elephant Man. Am J Med Genet. 1988;29(4):777-82. PubMed PMID: 3135754.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Further diagnostic thoughts about the Elephant Man. A1 - Cohen,M M,Jr PY - 1988/4/1/pubmed PY - 2001/3/28/medline PY - 1988/4/1/entrez SP - 777 EP - 82 JF - American journal of medical genetics JO - Am J Med Genet VL - 29 IS - 4 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3135754/Further_diagnostic_thoughts_about_the_Elephant_Man_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1988&volume=29&issue=4&spage=777 DB - PRIME DP - Unbound Medicine ER -