Primary hypertrophic osteoarthropathy: an update
Zeng Zhang, Changqing Zhang, Zhenlin Zhang
Primary hypertrophic osteoarthropathy: an update
Digital clubbing, which has been recognized as a sign of systemic disease, is one of the most ancient diseases. However, the pathogenesis of clubbing and hypertrophic osteoarthropathy has hitherto been poorly understood. The study of a clinically indistinguishable idiopathic form (primary hypertrophic osteoarthropathy, PHO) provides an opportunity to understand the pathogenesis of hypertrophic osteoarthropathy. Current advances in the study of PHO are discussed. The impaired metabolism of prostaglandin E2 (PGE2) plays a central role in its pathogenesis.
digital clubbing / primary hypertrophic osteoarthropathy / prostaglandin E2 (PGE2)
[1] |
Castori M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B. Pachydermoperiostosis: an update. Clin Genet2005; 68(6): 477-486
CrossRef
Pubmed
Google scholar
|
[2] |
Friedreich N. Hyperostose des gesammten skelettes. Virchows Arch1868; 43(1): 83-87
CrossRef
Google scholar
|
[3] |
Touraine A, Solente G, Gole L. Un syndrome nosteodermopathique: la pachydermie plicaturee avec pachyperiostose des extremites. Presse Med1935; 43: 1820-1824
|
[4] |
Jajic I. Epidemiology of hypertrophic osteoarthropathy. Clin Exp Rheumatol1992; 10(Suppl 7): 13
Pubmed
|
[5] |
Oikarinen A, Palatsi R, Kylmäniemi M, Keski-Oja J, Risteli J, Kallioinen M. Pachydermoperiostosis: analysis of the connective tissue abnormality in one family. J Am Acad Dermatol1994; 31(6): 947-953
CrossRef
Pubmed
Google scholar
|
[6] |
Harbison JB, Nice CM Jr. Familial pachydermoperiostosis presenting as an acromegaly-like syndrome. Am J Roentgenol Radium Ther Nucl Med1971; 112(3): 532-536
Pubmed
|
[7] |
Rimoin DL. Pachydermoperiostosis (Idiopathic Clubbing and Periostosis): genetic and physiologic considerations. N Engl J Med1965; 272(18): 923-931
CrossRef
Pubmed
Google scholar
|
[8] |
Currarino G, Tierney RC, Giesel RG, Weihl C. Familial idiopathic osteoarthropathy. Am J Roentgenol Radium Ther Nucl Med1961; 85: 633-644
Pubmed
|
[9] |
Chamberlain DS, Whitaker J, Silverman FN. Idiopathic Osteoarthropathy and Cranial Defects in Children (Familial Idiopathic Osteoarthropathy). Am J Roentgenol Radium Ther Nucl Med1965; 93: 408-415
Pubmed
|
[10] |
Guyot-Drouot MH, Solau-Gervais E, Cortet B, Deprez X, Chastanet P, Cotten A, Delcambre B, Flipo RM. Rheumatologic manifestations of pachydermoperiostosis and preliminary experience with bisphosphonates. J Rheumatol2000; 27(10): 2418-2423
Pubmed
|
[11] |
Martinez-Lavin M. Miscellaneous non-inflammatory musculoskeletal conditions. Pachydermoperiostosis. Best Pract Res Clin Rheumatol2011; 25(5): 727-734
CrossRef
Pubmed
Google scholar
|
[12] |
Sinha GP, Curtis P, Haigh D, Lealman GT, Dodds W, Bennett CP. Pachydermoperiostosis in childhood. Br J Rheumatol1997; 36(11): 1224-1227
CrossRef
Pubmed
Google scholar
|
[13] |
Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, Helliwell PS, Latos-Bieleńska A, Phillips SE, Markham AF, Bennett CP, Bonthron DT. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet2008; 40(6): 789-793
CrossRef
Pubmed
Google scholar
|
[14] |
Zhang Z, Xia W, He J, Zhang Z, Ke Y, Yue H, Wang C, Zhang H, Gu J, Hu W, Fu W, Hu Y, Li M, Liu Y. Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet2012; 90(1): 125-132
CrossRef
Pubmed
Google scholar
|
[15] |
Diggle CP, Parry DA, Logan CV, Laissue P, Rivera C, Restrepo CM, Fonseca DJ, Morgan JE, Allanore Y, Fontenay M, Wipff J, Varret M, Gibault L, Dalantaeva N, Korbonits M, Zhou B, Yuan G, Harifi G, Cefle K, Palanduz S, Akoglu H, Zwijnenburg PJ, Lichtenbelt KD, Aubry-Rozier B, Superti-Furga A, Dallapiccola B, Accadia M, Brancati F, Sheridan EG, Taylor GR, Carr IM, Johnson CA, Markham AF, Bonthron DT. Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. Hum Mutat2012; 33(8): 1175-1181
CrossRef
Pubmed
Google scholar
|
[16] |
Seifert W, Kühnisch J, Tüysüz B, Specker C, Brouwers A, Horn D. Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing. Hum Mutat2012; 33(4): 660-664
CrossRef
Pubmed
Google scholar
|
[17] |
Busch J, Frank V, Bachmann N, Otsuka A, Oji V, Metze D, Shah K, Danda S, Watzer B, Traupe H, Bolz HJ, Kabashima K, Bergmann C. Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing. J Invest Dermatol2012; 132(10): 2473-2476
CrossRef
Pubmed
Google scholar
|
[18] |
Bergmann C, Wobser M, Morbach H, Falkenbach A, Wittenhagen D, Lassay L, Ott H, Zerres K, Girschick HJ, Hamm H. Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations. Exp Dermatol2011; 20(6): 531-533
CrossRef
Pubmed
Google scholar
|
[19] |
Sinibaldi L, Harifi G, Bottillo I, Iannicelli M, El Hassani S, Brancati F, Dallapiccola B. A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. Clin Exp Rheumatol2010; 28(2): 153-157
Pubmed
|
[20] |
Diggle CP, Carr IM, Zitt E, Wusik K, Hopkin RJ, Prada CE, Calabrese O, Rittinger O, Punaro MG, Markham AF, Bonthron DT. Common and recurrent HPGD mutations in Caucasian individuals with primary hypertrophic osteoarthropathy. Rheumatology (Oxford)2010; 49(6): 1056-1062
CrossRef
Pubmed
Google scholar
|
[21] |
Tariq M, Azeem Z, Ali G, Chishti MS, Ahmad W. Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC). J Med Genet2009; 46(1): 14-20
CrossRef
Pubmed
Google scholar
|
[22] |
Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T, Seki A, Kabashima K, Otsuka A, Ishiko A, Tanese K, Miyakawa S, Sakabe J, Kuwahara M, Amagai M, Okano H, Suematsu M, Kudoh J. Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-genotype correlation in Japanese patients with pachydermoperiostosis. J Dermatol Sci2012; 68(1): 36-44
CrossRef
Pubmed
Google scholar
|
[23] |
Ursing B. Pachydermoperiostosis. Acta Med Scand1970; 188(3): 157-160
Pubmed
|
[24] |
Cantatore FP, Mancini L, Ingrosso AM, Carrozzo M. Pachydermoperiostosis: dermatological, neurological and radiological observations. Clin Rheumatol1995; 14(6): 705-707
CrossRef
Pubmed
Google scholar
|
[25] |
Jajic I, Jajic Z, Grazio S. Minor but important symptoms and signs in primary hypertrophic osteoarthropathy. Clin Exp Rheumatol2001; 19(3): 357-358
Pubmed
|
[26] |
Saigal R, Kansal A, Mittal M, Singh Y, Ram H. Pachydermoperiostosis with myelofibrosis and empty sella. J Assoc Physicians India2010; 58: 253-255
Pubmed
|
[27] |
Martinez-Lavin M. Exploring the cause of the most ancient clinical sign of medicine: finger clubbing. Semin Arthritis Rheum2007; 36(6): 380-385
CrossRef
Pubmed
Google scholar
|
[28] |
de Vernejoul MC, Kornak U. Heritable sclerosing bone disorders: presentation and new molecular mechanisms. Ann N Y Acad Sci2010; 1192(1): 269-277
CrossRef
Pubmed
Google scholar
|
[29] |
Narayanan S, Mohamed Gani VM, Sundararaju V. Primary hypertrophic osteoarthropathy with hypertrophic gastropathy. J Clin Rheumatol2010; 16(4): 190-192
CrossRef
Pubmed
Google scholar
|
[30] |
Martínez-Lavín M. Digital clubbing and hypertrophic osteoarthropathy: a unifying hypothesis. J Rheumatol1987; 14(1): 6-8
Pubmed
|
[31] |
Dickinson CJ, Martin JF. Megakaryocytes and platelet clumps as the cause of finger clubbing. Lancet1987; 2(8573): 1434-1435
CrossRef
Pubmed
Google scholar
|
[32] |
Watanabe O, Arimura K, Kitajima I, Osame M, Maruyama I. Greatly raised vascular endothelial growth factor (VEGF) in POEMS syndrome. Lancet1996; 347(9002): 702
CrossRef
Pubmed
Google scholar
|
[33] |
Soubrier M, Dubost JJ, Serre AF, Ristori JM, Sauvezie B, Cathebras P, Piette JC, Chapman A, Authier FJ, Gherardi RK. Growth factors in POEMS syndrome: evidence for a marked increase in circulating vascular endothelial growth factor. Arthritis Rheum1997; 40(4): 786-787
CrossRef
Pubmed
Google scholar
|
[34] |
Silveira LH, Martínez-Lavín M, Pineda C, Fonseca MC, Navarro C, Nava A. Vascular endothelial growth factor and hypertrophic osteoarthropathy. Clin Exp Rheumatol2000; 18(1): 57-62
Pubmed
|
[35] |
Ferrara N. Vascular endothelial growth factor: basic science and clinical progress. Endocr Rev2004; 25(4): 581-611
CrossRef
Pubmed
Google scholar
|
[36] |
Neufeld G, Cohen T, Gengrinovitch S, Poltorak Z. Vascular endothelial growth factor (VEGF) and its receptors. FASEB J1999; 13(1): 9-22
Pubmed
|
[37] |
Towler DA. Vascular biology and bone formation: hints from HIF. J Clin Invest2007; 117(6): 1477-1480
CrossRef
Pubmed
Google scholar
|
[38] |
Olán F, Portela M, Navarro C, Gaxiola M, Silveira LH, Ruiz V, Martínez-Lavín M. Circulating vascular endothelial growth factor concentrations in a case of pulmonary hypertrophic osteoarthropathy. Correlation with disease activity. J Rheumatol2004; 31(3): 614-616
Pubmed
|
[39] |
Vazquez-Abad D, Martinez-Lavin M. Macrothrombocytes in the peripheral circulation of patients with cardiogenic hypertrophic osteoarthropathy. Clin Exp Rheumatol1991; 9(1): 59-62
Pubmed
|
[40] |
Nomura T, Lu R, Pucci ML, Schuster VL. The two-step model of prostaglandin signal termination: in vitro reconstitution with the prostaglandin transporter and prostaglandin 15 dehydrogenase. Mol Pharmacol2004; 65(4): 973-978
CrossRef
Pubmed
Google scholar
|
[41] |
Schuster VL. Prostaglandin transport. Prostaglandins Other Lipid Mediat2002; 68- 69: 633-647
CrossRef
Pubmed
Google scholar
|
[42] |
Endo S, Nomura T, Chan BS, Lu R, Pucci ML, Bao Y, Schuster VL. Expression of PGT in MDCK cell monolayers: polarized apical localization and induction of active PG transport. Am J Physiol Renal Physiol2002; 282(4): F618-F622
Pubmed
|
[43] |
Cattral MS, Altraif I, Greig PD, Blendis L, Levy GA. Toxic effects of intravenous and oral prostaglandin E therapy in patients with liver disease. Am J Med1994; 97(4): 369-373
CrossRef
Pubmed
Google scholar
|
[44] |
Coggins KG, Latour A, Nguyen MS, Audoly L, Coffman TM, Koller BH. Metabolism of PGE2 by prostaglandin dehydrogenase is essential for remodeling the ductus arteriosus. Nat Med2002; 8(2): 91-92
CrossRef
Pubmed
Google scholar
|
[45] |
Chang HY, Locker J, Lu R, Schuster VL. Failure of postnatal ductus arteriosus closure in prostaglandin transporter-deficient mice. Circulation2010; 121(4): 529-536
CrossRef
Pubmed
Google scholar
|
[46] |
Martínez-Lavín M, Pineda C, Navarro C, Buendía A, Zabal C. Primary hypertrophic osteoarthropathy: another heritable disorder associated with patent ductus arteriosus. Pediatr Cardiol1993; 14(3): 181-182
CrossRef
Pubmed
Google scholar
|
[47] |
Harada S, Nagy JA, Sullivan KA, Thomas KA, Endo N, Rodan GA, Rodan SB. Induction of vascular endothelial growth factor expression by prostaglandin E2 and E1 in osteoblasts. J Clin Invest1994; 93(6): 2490-2496
CrossRef
Pubmed
Google scholar
|
[48] |
Fabre JE, Nguyen M, Athirakul K, Coggins K, McNeish JD, Austin S, Parise LK, FitzGerald GA, Coffman TM, Koller BH. Activation of the murine EP3 receptor for PGE2 inhibits cAMP production and promotes platelet aggregation. J Clin Invest2001; 107(5): 603-610
CrossRef
Pubmed
Google scholar
|
[49] |
Nguyen S, Hojjati M. Review of current therapies for secondary hypertrophic pulmonary osteoarthropathy. Clin Rheumatol2011; 30(1): 7-13
CrossRef
Pubmed
Google scholar
|
[50] |
Jayakar BA, Abelson AG, Yao Q. Treatment of hypertrophic osteoarthropathy with zoledronic acid: case report and review of the literature. Semin Arthritis Rheum2011; 41(2): 291-296
CrossRef
Pubmed
Google scholar
|
[51] |
Tanaka H, Maehama S, Imanaka F, Sakai A, Abe K, Hamada M, Yamashita J, Kimura A, Imamura N, Fujimura K, Kuramoto A. Pachydermoperiostosis with myelofibrosis and anemia: report of a case of anemia of multifactorial causes and its improvement with steroid pulse and iron therapy. Jpn J Med1991; 30(1): 73-80
CrossRef
Pubmed
Google scholar
|
[52] |
Ninomiya S, Hara T, Tsurumi H, Kanemura N, Kasahara S, Ogawa Y, Seishima M, Hirose Y, Moriwaki H. Myelofibrosis successfully treated with prednisolone in a patient with pachydermoperiostosis. Intern Med2011; 50(19): 2207-2211
CrossRef
Pubmed
Google scholar
|
[53] |
Monteiro E, Carvalho P, Silva A, Ferraro A. Frontal rhytidectomy: a new approach to improve deep wrinkles in a case of pachydermoperiostosis. Plast Reconstr Surg2003; 112(4): 1189-1191
CrossRef
Pubmed
Google scholar
|
/
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