Clinical Rheumatology

, Volume 28, Issue 10, pp 1229–1233 | Cite as

Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report

  • A. Martínez-Ferrer
  • P. Peris
  • Ll. Alós
  • M. Morales-Ruiz
  • N. Guañabens
Case Report

Abstract

Primary hypertrophic osteoarthropathy, or pachydermoperiostosis (PDP), is an infrequent genetic condition characterized by digital clubbing, periostosis, and pachydermia and is distinct from a more common form, secondary hypertrophic osteoarthropathy, which always associates with an underlying cause (frequently pulmonary or cardiac disease). The diagnosis of this disorder as well as its clinical evaluation can be difficult. We report a 15-year-old boy presenting with intermittent arthralgias and clubbing of fingers and toes for the previous 2 years. The ankles and knees were enlarged, and X-rays showed periosteal apposition. The search for a secondary cause was negative. The skin appearance was normal, but a skin biopsy was indicative of pachydermia, further confirming the diagnosis of PDP. Bone turnover markers were increased at diagnosis and progressively decreased during follow-up; prostaglandin E2, a recently implicated mediator of this disorder, was markedly elevated. In the present case, carrying out a skin biopsy helped us to diagnose this condition. In addition, bone turnover markers were useful for monitoring the disease activity; whereas, increased prostaglandin E2 levels seems to confirm the role of this mediator in the etiopathogenesis of this disorder.

Keywords

Bone markers Digital clubbing Pachydermoperiostosis Primary hypertrophic osteoarthropathy Prostaglandin E2 

Notes

Acknowledgement

The authors thank Dr. M. Whyte for his invaluable help.

Disclosures

None.

References

  1. 1.
    Okten A, Mungan I, Kalyoncu M, Orbak Z (2007) Two cases with pachydermoperiostosis and discussion of tamoxifen citrate treatment for arthralgia. Clin Rheumatol 26:8–11PubMedCrossRefGoogle Scholar
  2. 2.
    Santos-Durán JC, Yuste-Chaves M, Martínez-González O, Alonso-San Pablo MT, Sánchez-Estella J (2007) Pachydermoperiostosis (Touraine-Solente-Golé syndrome). Case report. Actas Dermosifiliogr 98:116–120PubMedCrossRefGoogle Scholar
  3. 3.
    Kumar U, Prakash Bhatt S, Misra A (2008) Unusual associations of pachydermoperiostosis: a case report. Indian J Med Sci 62:65–68PubMedCrossRefGoogle Scholar
  4. 4.
    Castori M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B (2005) Pachydermoperiostosis: an update. Clin Genet 68:477–486PubMedCrossRefGoogle Scholar
  5. 5.
    Uppal S, Diggle CP, Carr IM, Fishwick CWG, Ahmed M, Ibrahim GH et al (2008) Mutation in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet 40:789–793PubMedCrossRefGoogle Scholar
  6. 6.
    Rendina D, De Filippo G, Viceconti R, Soscia E, Sirignano C, Salvatore M et al (2008) Interleukin (IL)-6 and receptor activator of nuclear factor (NF)-κB ligand (RANKL) are increased in the serum of a patient with primary pachydermoperiostosis. Scand J Rheumatol 37:225–229PubMedCrossRefGoogle Scholar
  7. 7.
    Rubini G, Lauriero F, Rubini D, D’Addabbo A (1993) 99Tcm-MDP global skeletal uptake and markers of bone metabolism in patients with bone diseases. Nucl Med Commun 14:567–572PubMedCrossRefGoogle Scholar
  8. 8.
    Jojima H, Kinoshita K, Naito M (2007) A case of pachydermoperiostosis treated by oral administration of a bisphosphonate and arthroscopic synovectomy. Mod Rheumatol 17:330–332PubMedCrossRefGoogle Scholar
  9. 9.
    Crofton PM, Evans N, Taylor MRH, Holland CV (2004) Procollagen type I amino-terminal propeptide: pediatric reference data and relationship with procollagen type I carboxyl-terminal propeptide. Clin Chem 50:2173–2176PubMedCrossRefGoogle Scholar
  10. 10.
    Yang L, Grey V (2006) Pediatric intervals for bone markers. Clin Biochem 39:561–568PubMedCrossRefGoogle Scholar
  11. 11.
    Van Coeverden SCCM, Netelenbos JC, de Ridder CM, Roos JC, Popp-Snijders C, Delemarre-van de Waal HA (2002) Bone metabolism markers and bone mass in healthy puberal boys and girls. Clin Endocrinol 57:107–116CrossRefGoogle Scholar
  12. 12.
    Rauchenzauner M, Schmid A, Heinz-Erian P, Kapelari K, Falkensammer G, Griesmacher A et al (2007) Sex- and age-specific reference curves for serum markers of bone turnover in healthy children from 2 months to 18 years. J Clin Endocrinol Metab 92:443–449PubMedCrossRefGoogle Scholar
  13. 13.
    Kabi F, Mkinsi O, Janani S, Raissouni N (2006) Pachydermoperiostosis. A case report. Rev Med Interne 27:710–712PubMedCrossRefGoogle Scholar
  14. 14.
    Matsumoto T, Tsurumoto T, Shindo H (2003) A case of pachydermoperiostosis associated with arthritis. Mod Rheumatol 13:371–373CrossRefGoogle Scholar
  15. 15.
    Sasaki T, Nakajima H (1989) Prolyl hydroxylase and procollagen III levels in the sera from patients with collagen diseases and psoriasis. J Dermatol 16:207–211PubMedGoogle Scholar

Copyright information

© Clinical Rheumatology 2009

Authors and Affiliations

  • A. Martínez-Ferrer
    • 1
  • P. Peris
    • 1
  • Ll. Alós
    • 2
  • M. Morales-Ruiz
    • 3
  • N. Guañabens
    • 1
  1. 1.Rheumatology Service, Hospital Clinic, IDIBAPSUniversity of BarcelonaBarcelonaSpain
  2. 2.Department of Pathology, Hospital Clinic, IDIBAPSUniversity of BarcelonaBarcelonaSpain
  3. 3.Biochemistry and Molecular Genetics Department, Hospital Clinic, IDIBAPSUniversity of BarcelonaBarcelonaSpain

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