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

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Abstract

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 siblings with the diagnosis of PHOAR1. A novel 2-bp homozygous deletion was found in exon 3 (c.310-311delCT) of HPGD gene in the patients. Clinical and radiological findings of the siblings were evaluated between 4 months and 8 years and 6 months of age. The painful swelling and sweating of the hands and feet, cranial ossification defect and expanded diaphyses were evident at infantile period and gradually showed improvement until 4 years of age. After the age of 4 years, digital clubbing and swelling of knees persisted, palmoplantar hyperkeratosis developed and acro-osteolysis became evident on hand radiographs. In conclusion, we suggest that the clinical findings of the patients with PHOAR1 should be classified in two periods as early and late childhood. We also observed that there was intrafamilial variability of clinical findings.

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Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Pediatric Genetics, Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey

    Beyhan Tüysüz & Tuğba Erener-Ercan

  2. Program on Neurogenetics, Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA

    Saliha Yılmaz, Emre Ceyhun, Kaya Bilguvar & Murat Günel

  3. Department of Pediatric Rheumatology Cerrahpaşa Medical School, Istanbul University, Istanbul, Turkey

    Özgür Kasapçopur

  4. Division of Pediatric Genetics, Department of Pediatrics, Cerrahpaşa Medical Faculty, Istanbul University, Istanbul, Turkey

    Beyhan Tüysüz

Authors
  1. Beyhan Tüysüz
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  2. Saliha Yılmaz
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  3. Özgür Kasapçopur
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  4. Tuğba Erener-Ercan
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  5. Emre Ceyhun
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  6. Kaya Bilguvar
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  7. Murat Günel
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Correspondence to Beyhan Tüysüz.

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Tüysüz, B., Yılmaz, S., Kasapçopur, Ö. et al. Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up. Rheumatol Int 34, 1539–1544 (2014). https://doi.org/10.1007/s00296-014-3037-8

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  • DOI: https://doi.org/10.1007/s00296-014-3037-8

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