Literature DB >> 3152479

Understanding Proteus syndrome, unmasking the elephant man, and stemming elephant fever.

M M Cohen1.   

Abstract

Four patients with Proteus syndrome are reported; 3 of the 4 died of unusual causes. Current findings of the syndrome are reviewed, and the present state of its delineation is assessed with emphasis on what is known about natural history. Differential diagnosis includes neurofibromatosis, Klippel-Trénaunay-Weber syndrome, Maffucci syndrome, epidermal nevus syndrome, and the combination of Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcaba-Myhre syndrome, now thought to constitute a single disorder. Conditions that may possibly overlap with Proteus syndrome--encephalocraniocutaneous lipomatosis and Thanos syndrome--receive special attention. Various suggested diagnoses for the elephant man's disorder are evaluated, and it is concluded that he suffered from Proteus syndrome, not neurofibromatosis. Finally, the psychosocial significance of elephant fever (EF) is discussed, and a plea is made for taking the EF out of NF.

Entities:  

Mesh:

Year:  1988        PMID: 3152479

Source DB:  PubMed          Journal:  Neurofibromatosis        ISSN: 1010-5662


  8 in total

1.  Phenotype and Surgical Treatment in a Case of Proteus Syndrome With Craniofacial and Oral Findings.

Authors:  Reinhard E Friedrich
Journal:  In Vivo       Date:  2021 May-Jun       Impact factor: 2.155

2.  Late-onset Proteus syndrome with cerebriform connective tissue nevus and subsequent development of intraductal papilloma.

Authors:  Emily W Modlin; Anne M Slavotinek; Thomas N Darling; Stanley Lipkowitz; Frederic G Barr; Pamela N Munster; Leslie G Biesecker; Christopher A Ours
Journal:  Am J Med Genet A       Date:  2022-04-20       Impact factor: 2.578

3.  Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms.

Authors:  Martino Ruggieri; Andrea D Praticò; Agostino Serra; Luigi Maiolino; Salvatore Cocuzza; Rosario Caltabiano; Agata Polizzi
Journal:  Childs Nerv Syst       Date:  2016-09-26       Impact factor: 1.475

4.  Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.

Authors:  E Legius; R Wu; M Eyssen; P Marynen; J P Fryns; J J Cassiman
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

5.  Transmission of Proteus syndrome from father to son?

Authors:  J Goodship; A Redfearn; D Milligan; D Gardner-Medwin; J Burn
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

6.  Proteus syndrome: emphasis on the pulmonary manifestations.

Authors:  B Newman; A H Urbach; D Orenstein; P S Dickman
Journal:  Pediatr Radiol       Date:  1994

7.  Lymphangiolipoma of the thoracic spine in a pediatric patient with Proteus syndrome.

Authors:  J M Whitley; A M Flannery
Journal:  Childs Nerv Syst       Date:  1996-04       Impact factor: 1.475

8.  Neurofibromatosis type 1 and the "elephant man's" disease: the confusion persists: an ethnographic study.

Authors:  Claire-Marie Legendre; Catherine Charpentier-Côté; Régen Drouin; Chantal Bouffard
Journal:  PLoS One       Date:  2011-02-09       Impact factor: 3.240

  8 in total

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