A Case of Concurrent Proteus Syndrome and Hemophilia A

Reza Tavakoli; Bahar Mansoori; Mozhgan Hashemieh; Koroush Sheibani

IJ Pediatrics

The Scientific Journal of Growth & Development Research Center

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A Case of Concurrent Proteus Syndrome and Hemophilia A

Author(s):

Reza Tavakoli¹,

Bahar Mansoori²,

Mozhgan Hashemieh³,

Koroush Sheibani^2,*

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

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

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

IJ Pediatrics:Vol. 22, issue 2; 255-259

Published online:Jun 30, 2012

Article type:Case Report

Received:Jan 09, 2011

Accepted:Jul 26, 2011

How to Cite:Reza TavakoliBahar MansooriMozhgan HashemiehKoroush SheibaniA Case of Concurrent Proteus Syndrome and Hemophilia A.Iran J Pediatr.22(2):255-259.

Abstract

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.

Keywords

Proteus syndrome

Musculoskeletal

Hemophilia A

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