A Case of Concurrent Proteus Syndrome and Hemophilia A


Reza Tavakoli 1 , Bahar Mansoori 2 , Mozhgan Hashemieh 3 , Koroush Sheibani 2 , *

1 Department of Orthopedics, Shahid Beheshti University of Medical Sciences, Tehran, Iran

2 Clinical Research and Development Center, Imam Hossein Medical Center, Tehran, Iran

3 Department of Pediatrics, Shahid Beheshti University of Medical Sciences, Tehran, Iran

How to Cite: Tavakoli R, Mansoori B, Hashemieh M, Sheibani K. A Case of Concurrent Proteus Syndrome and Hemophilia A, Iran J Pediatr. 2015 ; 22(2):255-259.


Iranian Journal of Pediatrics: 22 (2); 255-259
Published Online: June 30, 2012
Article Type: Case Report
Received: January 09, 2011
Accepted: July 26, 2011


Background: Proteus syndrome is a very rare condition with less than 100 confirmed cases reported worldwide. We report a case of Proteus syndrome in a two-year-old male who has hemophilia A comorbidity.
Case Presentation: A two-year-old male patient was admitted with the chief complaint of severe bleeding in mouth cavity after trauma for two weeks. At admission he was found to have petechiae on buccal mucosa and fecal discoloration due to GI bleeding. We noted multiple abnormalities in his musculoskeletal system and skin. He had lymph edema in left leg, hemihypertrophy, macrodactyly in both foots and macrocephaly. With the history of severe bleeding and recurrent blood product transfusion, we suspected a hemorrhagic disorder. The reduced level of Factor VIII activity confirmed the diagnosis of hemophilia A. Considering patient’s various musculoskeletal abnormalities according to the diagnostic criteria and after ruling out similar disorders the diagnosis of Proteus syndrome was established.
Conclusion: Because of the variability of clinical features, Proteus syndrome can be confused with other disorders of multiple tissue overgrowth. Our case of Proteus syndrome, who had hemophilia A comorbidity outlines the challenges in diagnosis of such rare combination of diseases.




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