Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
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
© Copyright 2012 - Iranian Journal of Pediatrics
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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