Article
Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation-case report and review of literature.
Seminars in arthritis and rheumatism - 1 Feb 2014
Madruga Dias João A C, Rosa Rita S, Perpétuo Inês, Rodrigues Ana M, Janeiro André, Costa Maria M, Gaião Luís, Pereira da Silva José A, Fonseca João E, Miltenberger-Miltenyi Gabriel
Abstract excerpt
OBJECTIVES: Pachydermoperiostosis is a rare clinical entity characterized by skin thickening of the forehead, eyelids, and hands, digital clubbing, and periostosis. Two genes have been associated, HPGD and recently SLCO2A1. We present a detailed clinical and genetic description of an African pachydermoperiostosis patient with a SLCO2A1 mutation. METHODS: Standard clinical and laboratory evaluation was carried...
Topics
- Adult
- Eyelids
- Hand
- Humans
- Knee
- Male
- Mutation
- Organic Anion Transporters
- Osteoarthropathy, Primary Hypertrophic
- Radiography