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Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation—Case report and review of literature  João A.C. Madruga Dias,

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Presentation on theme: "Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation—Case report and review of literature  João A.C. Madruga Dias,"— Presentation transcript:

1 Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation—Case report and review of literature  João A.C. Madruga Dias, MD, Rita S. Rosa, MD, Inês Perpétuo, MSc, Ana M. Rodrigues, MD, André Janeiro, MSc, Maria M. Costa, MD, Luís Gaião, MD, José A. Pereira da Silva, MD, João E. Fonseca, PhD, Gabriel Miltenberger-Miltenyi, PhD  Seminars in Arthritis and Rheumatism  Volume 43, Issue 4, Pages (February 2014) DOI: /j.semarthrit Copyright © 2014 Elsevier Inc. Terms and Conditions

2 Fig. 1 (A) Facial photograph of the patient revealing coarse facial features, cutis verticis gyrata, and marked bilateral ptosis. (B) Facial photograph of the patient after corrective eyelid surgery. Additional informed consent was obtained from the patient for whom identifying information is included in this article. Seminars in Arthritis and Rheumatism  , DOI: ( /j.semarthrit ) Copyright © 2014 Elsevier Inc. Terms and Conditions

3 Fig. 2 (A) Photograph of the patient's hands showing watch glass fingernails and pachydermia. (B) Anterior view of the knees, depicting striking swelling with thickened skin. (C) Anterior view of the ankles illustrating marked swelling, pachydermia, and watch glass toenails. Seminars in Arthritis and Rheumatism  , DOI: ( /j.semarthrit ) Copyright © 2014 Elsevier Inc. Terms and Conditions

4 Fig. 3 (A) Radiograph of the hands disclosing mild periostosis in the phalanx and metacarpal bones. (B) Radiograph of the knee exhibiting exuberant periostosis involving the femur, tibia, and patella bilaterally; there is also evident knee swelling. (C) Radiograph of the ankles showing extensive periostosis. Seminars in Arthritis and Rheumatism  , DOI: ( /j.semarthrit ) Copyright © 2014 Elsevier Inc. Terms and Conditions


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