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Primary hypertrophic osteoarthropathy: Report of two novel genetic variants in the SLCO2A1 gene in two Mexican patients

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Here, we report two patients with novel mutations in the SLCO2A1 gene. Patient 1 was a 23‐year‐old male patient who attended the dermatology clinic with a 10‐year history of severe… Click to show full abstract

Here, we report two patients with novel mutations in the SLCO2A1 gene. Patient 1 was a 23‐year‐old male patient who attended the dermatology clinic with a 10‐year history of severe acne and hyperseborrhea. On physical examination, the presence of deep furrows and thickened skin on his forehead and cheeks, acne scars, digital clubbing of hands and feet and knee swelling were noticed [Figure 1]. An X‐ray of the extremities revealed new periosteal bone formation circumferentially along the shaft of the tibia and fibula as well as cortical thickening at the distal ends.

Keywords: report two; primary hypertrophic; slco2a1 gene; dermatology

Journal Title: Indian Journal of Dermatology, Venereology and Leprology
Year Published: 2018

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