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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 1018-4406
Vol. 22, No. 2, 2012, pp. 255-259
Bioline Code: pe12045
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 22, No. 2, 2012, pp. 255-259

 en A Case of Concurrent Proteus Syndrome and Hemophilia A
Hashemieh, Mozhgan; Mansoori, Bahar; Tavakoli, Reza & Sheibani, Koroush


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.

Proteus syndrome; Musculoskeletal; Hemophilia A

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