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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...

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Source

Identifiers

PMID: 24012041
DOI: 10.1016/j.semarthrit.2013.07.015

Genes

HPGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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