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Article

Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up.

Rheumatology international - 1 Nov 2014

Tüysüz Beyhan, Yılmaz Saliha, Kasapçopur Özgür, Erener-Ercan Tuğba, Ceyhun Emre, Bilguvar Kaya, Günel Murat

Abstract excerpt

Autosomal recessive primary hypertrophic osteoarthropathy1 (PHOAR1) is characterized by delayed closure of the fontanels, digital clubbing, arthropathy and periostosis. Homozygous mutations in hydroxyprostaglandin dehydrogenase (HPGD) gene are the underlying pathology of PHOAR1. The aim of this study was to analyze the HPGD gene and the changing clinical and radiological findings with advancing age of two...

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Identifiers

PMID: 24816859
DOI: 10.1007/s00296-014-3037-8

Genes

HPGD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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