History

Patients may report the following signs or symptoms:

Enlargement of the fingers and the toes
Swelling or pain of the large joints
Coarsening of facial features
Grooves or depressions in the scalp
Oily, scaly facial skin
Excessive sweating of the palms, soles, or other areas
A sensation of warmth or burning in the hands and feet

Physical Examination

Digital clubbing and/or paronychial thickening may be observed (see the image below).

Clubbed fingernail.

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Coarse facial features may be reminiscent of acromegaly.^[39]Facial skin changes may include sclerodermoid thickening and furrowing of the skin on the forehead and the cheeks. Leonine facies may occur in advanced stages.

Cutis verticis gyrata (undulating grooved and thickened scalp) may become apparent during adolescence (see image below).

Cutis verticis gyrata. Courtesy of DermNet New Zealand (http://www.dermnetnz.org/assets/Uploads/dermal-infiltrative/cvg2.jpg).

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Seborrheic dermatitis of the face and the scalp may be present.

Palmoplantar hyperhidrosis or generalized hyperhidrosis characterized by shiny and/or wet skin may be observed.

Dermatitis of the hands and the feet may be associated with hyperhidrosis.

Bilateral blepharoptosis may be present.

Facial acne may be present.

Complications

Patients with pachydermoperiostosis or primary hypertropic osteoarthropathy may develop severe kyphosis, restricted motion, and neurologic manifestations.

Differential Diagnoses

Lowenthal MN, Tombak A, Lowenthal A. Secondary hypertrophic osteoarthropathy (HOA) mimicking primary HOA (pachydermoperiostitis or Touraine-Solente-Golé) syndrome. Isr Med Assoc J. 2004 Jan. 6(1):64. [QxMD MEDLINE Link].
Sonoda A, Wada Y, Togo K, Mizukami K, Fuyuno Y, Umeno J, et al. Characteristic Facial Appearance Was the Key to Diagnosing Chronic Enteropathy Associated with SLCO2A1-associated Primary Hypertrophic Osteoarthropathy. Intern Med. 2020 Feb 15. 59 (4):491-494. [QxMD MEDLINE Link].
Sandoval AR, Robles BJ, Llanos JC, Porres S, Dardón JD, Harrison RM. Cutis verticis gyrata as a clinical manifestation of Touraine-Solente-Gole' syndrome (pachydermoperiostosis). BMJ Case Rep. 2013 Jul 12. 2013:[QxMD MEDLINE Link].
Alves AP, Holanda Filha JG, et al. [Eyelid ptosis associated with pachydermoperiostosis: case report.]. Arq Bras Oftalmol. 2005 May-Jun. 68(3):401-4. [QxMD MEDLINE Link].
Arinci A, Tümerdem B, Karan MA, et al. Ptosis caused by pachydermoperiostosis. Ann Plast Surg. 2002 Sep. 49(3):322-5. [QxMD MEDLINE Link].
Touraine A, Solente G, Gole L. Un syndrome osteodermopathique: la pachydermie plicaturee avec pachyperiostose ds extremites. Presse Med. 1935. 43:1820-4.
Uppal S, Diggle CP, Carr IM, et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. 2008 Jun. 40(6):789-93. [QxMD MEDLINE Link].
Nakazawa S, Niizeki H, Matsuda M, Nakabayashi K, Seki A, Mori T, et al. Involvement of prostaglandin E2 in the first Japanese case of pachydermoperiostosis with HPGD mutation and recalcitrant leg ulcer. J Dermatol Sci. 2015 May. 78(2):153-5. [QxMD MEDLINE Link].
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Ayoub N, Al-Khenaizan S, Sonbol H, Albreakan R, AlSufyani M, AlBalwi M. A novel homozygous mutation in the SLCO₂ A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient. Int J Dermatol. 2015 Jan 20. [QxMD MEDLINE Link].
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Niizeki H, Shiohama A, Sasaki T, Seki A, Kabashima K, Otsuka A, et al. The complete type of pachydermoperiostosis: a novel nonsense mutation p.E141* of the SLCO2A1 gene. J Dermatol Sci. 2014 Sep. 75(3):193-5. [QxMD MEDLINE Link].
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Rendina D, De Filippo G, Viceconti R, et al. Interleukin (IL)-6 and receptor activator of nuclear factor (NF)-kappaB ligand (RANKL) are increased in the serum of a patient with primary pachydermoperiostosis. Scand J Rheumatol. 2008 May-Jun. 37(3):225-9. [QxMD MEDLINE Link].
Ikeda F, Okada H, Mizuno M, et al. Pachydermoperiostosis associated with juvenile polyps of the stomach and gastric adenocarcinoma. J Gastroenterol. 2004. 39(4):370-4. [QxMD MEDLINE Link].
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Lakshmi TS, Rao PN, Nagaria M. Primary pachydermoperiostosis associated with Menetrier's disease. Indian J Dermatol Venereol Leprol. 2001 Sep-Oct. 67(5):256-8. [QxMD MEDLINE Link].
Sethuraman G, Malhotra AK, Khaitan BK, et al. Familial pachydermoperiostosis in association with protein-losing enteropathy. Clin Exp Dermatol. 2006 Jul. 31(4):531-4. [QxMD MEDLINE Link].
Bachmeyer C, Blum L, Cadranel JF, et al. Myelofibrosis in a patient with pachydermoperiostosis. Clin Exp Dermatol. 2005 Nov. 30(6):646-8. [QxMD MEDLINE Link].
Kumar U, Bhatt SP, Misra A. Unusual associations of pachydermoperiostosis: A case report. Indian J Med Sci. 2008 Feb. 62(2):65-8. [QxMD MEDLINE Link].
Saghafi M, Azarian A, Nohesara N. Primary hypertrophic osteoarthropathy with myelofibrosis. Rheumatol Int. 2008 Apr. 28(6):597-600. [QxMD MEDLINE Link].
Ninomiya S, Hara T, Tsurumi H, Kanemura N, Kasahara S, Ogawa Y, et al. Myelofibrosis successfully treated with prednisolone in a patient with pachydermoperiostosis. Intern Med. 2011. 50(19):2207-11. [QxMD MEDLINE Link].
Poormoghim H, Hosseynian A, Javadi A. Primary hypertrophic osteoarthropathy. Rheumatol Int. 2010 Dec 2. [QxMD MEDLINE Link].
Ukinc K, Ersoz HO, Erem C, et al. Pachydermoperiostosis with gynecomastia and osteoporosis: a rare case with a rare presentation. Int J Clin Pract. 2007 Nov. 61(11):1939-40. [QxMD MEDLINE Link].
Fietta P, Manganelli P. Pachydermoperiostosis and psoriatic onychopathy: an unusual association. J Eur Acad Dermatol Venereol. 2003 Jan. 17(1):73-6. [QxMD MEDLINE Link].
Akdeniz BG, Seckin T. Periodontal and alveolar bone abnormalities associated with pachydermoperiostosis. Periodontal Clin Investig. 2001. 23(1):5-10. [QxMD MEDLINE Link].
Levin SE, Harrisberg JR, Govendrageloo K. Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease. Cardiol Young. 2002 May. 12(3):304-7. [QxMD MEDLINE Link].
Sinha GP, Curtis P, Haigh D, et al. Pachydermoperiostosis in childhood. Br J Rheumatol. 1997 Nov. 36(11):1224-7. [QxMD MEDLINE Link].
Nakajima M, Hirano T, Itoh K, et al. Atherothrombotic brain infarction in a patient with pachydermoperiostosis. Mod Rheumatol. 2008. 18(3):281-4. [QxMD MEDLINE Link].
Diamond S, Momeni M. Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. J Clin Rheumatol. 2007 Aug. 13(4):242-3. [QxMD MEDLINE Link].
Shinjo SK, Borba EF, Gonçalves CR, et al. Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. J Clin Rheumatol. 2007 Jun. 13(3):175. [QxMD MEDLINE Link].
Ozdemir M, Yildirim S, Mevlitoglu I. En coup de sabre accompanied by pachydermoperiostosis: a case report. Clin Exp Rheumatol. 2007 Mar-Apr. 25(2):315-7. [QxMD MEDLINE Link].
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Qian X, Qin J. Hypertrophic pulmonary osteoarthropathy with primary lung cancer. Oncol Lett. 2014 Jun. 7(6):2079-2082. [QxMD MEDLINE Link]. [Full Text].
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Reginato AJ, Schiapachasse V, Guerrero R. Familial idiopathic hypertrophic osteoarthropathy and cranial suture defects in children. Skeletal Radiol. 1982. 8(2):105-9. [QxMD MEDLINE Link].
Seggewiss R, Hess T, Fiehn C. A family with a variant form of primary hypertrophic osteoarthropathy restricted to the lower extremities. Joint Bone Spine. 2003 Jun. 70(3):230-3. [QxMD MEDLINE Link].
Adams B, Amin T, Leone V, Wood M, Kraft JK. Primary hypertrophic osteoarthropathy: ultrasound and MRI findings. Pediatr Radiol. 2016 May. 46 (5):727-30. [QxMD MEDLINE Link].
Hedayati H, Barmada R, Skosey JL. Acrolysis in pachydermoperiostosis. Primary or idiopathic hypertrophic osteoarthropathy. Arch Intern Med. 1980 Aug. 140(8):1087-8. [QxMD MEDLINE Link].
Herbert DA, Fessel WJ. Idiopathic hypertrophic osteoarthropathy (pachydermoperiostosis). West J Med. 1981 Apr. 134(4):354-7. [QxMD MEDLINE Link].
Jajic Z, Jajic I, Nemcic T. Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. Arch Med Res. 2001 Mar-Apr. 32(2):136-42. [QxMD MEDLINE Link].
Fam AG, Chin-Sang H, Ramsay CA. Pachydermoperiostosis: scintigraphic, thermographic, plethysmographic, and capillaroscopic observations. Ann Rheum Dis. 1983 Feb. 42(1):98-102. [QxMD MEDLINE Link].
Santhosh S, Bhattacharya A, Bhadada S, Kaur R, Singh M, Mittal BR. Three-phase skeletal scintigraphy in pachydermoperiostosis. Clin Nucl Med. 2011 Dec. 36(12):e199-201. [QxMD MEDLINE Link].
Shakya P, Pokhrel KN, Mlunde LB, Tan S, Ota E, Niizeki H. Effectiveness of non-steroidal anti-inflammatory drugs among patients with primary hypertrophic osteoarthropathy: A systematic review. J Dermatol Sci. 2018 Apr. 90 (1):21-26. [QxMD MEDLINE Link].
Sun F, Guo L, Ye S. Primary Hypertrophic Osteoarthropathy With SLCO2A1 Mutation in a Chinese Patient Successfully Treated With Etoricoxib. J Clin Rheumatol. 2018 Apr. 24 (3):164-167. [QxMD MEDLINE Link].
Vaidya B, Baral R, Baral H, Nakarmi S. Inflammatory variant of pachydermoperiostosis responding to methotrexate: a report of two cases. Oxf Med Case Reports. 2019 Apr. 2019 (4):omy128. [QxMD MEDLINE Link].
Wen X, Li Y, Hamblin MR, Jiang X. Facial Manifestations of Pachydermoperiostosis Treated with Botulinum Toxin Type-A: Report of 3 Cases. Acta Derm Venereol. 2017 Feb 22. [QxMD MEDLINE Link].
Bhansali A, Singh R, Sriraam M, et al. Pachydermoperiostitis and bisphosphonates. J Assoc Physicians India. 2006 Apr. 54:340. [QxMD MEDLINE Link].
Guyot-Drouot MH, Solau-Gervais E, Cortet B, et a;. Rheumatologic manifestations of pachydermoperiostosis and preliminary experience with bisphosphonates. J Rheumatol. 2000 Oct. 27(10):2418-23. [QxMD MEDLINE Link].
Maeda H, Kumagai K, Konishi F, et al. Successful treatment of arthralgia with tamoxifen citrate in a patient with pachydermoperiostosis. Rheumatology (Oxford). 2000 Oct. 39(10):1158-9. [QxMD MEDLINE Link].
Okten A, Mungan I, Kalyoncu M, et al. Two cases with pachydermoperiostosis and discussion of tamoxifen citrate treatment for arthralgia. Clin Rheumatol. 2007 Jan. 26(1):8-11. [QxMD MEDLINE Link].
Jojima H, Kinoshita K, Naito M. A case of pachydermoperiostosis treated by oral administration of a bisphosphonate and arthroscopic synovectomy. Mod Rheumatol. 2007. 17(4):330-2. [QxMD MEDLINE Link].
Li SS, He JW, Fu WZ, Liu YJ, Hu YQ, Zhang ZL. Clinical, Biochemical, and Genetic Features of 41 Han Chinese Families With Primary Hypertrophic Osteoarthropathy, and Their Therapeutic Response to Etoricoxib: Results From a Six-Month Prospective Clinical Intervention. J Bone Miner Res. 2017 Apr 20. [QxMD MEDLINE Link].
George L, Sachithanandam K, Gupta A, et al. Frontal rhytidectomy as surgical treatment for pachydermoperiostosis: a case report. J Dermatolog Treat. 2008. 19(1):61-3. [QxMD MEDLINE Link].
Monteiro E, Carvalho P, Silva A, et al. Frontal rhytidectomy: a new approach to improve deep wrinkles in a case of pachydermoperiostosis. Plast Reconstr Surg. 2003 Sep 15. 112(4):1189-91. [QxMD MEDLINE Link].
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Warwas S, Specker C, Jäger M, Landgraeber S. Arthroscopic synovectomy and radiosynoviorthesis: a treatment option for recurrent arthritis symptoms in patients with pachydermoperiostosis. Reumatismo. 2013 May 27. 65(2):82-5. [QxMD MEDLINE Link].

Media Gallery

Clubbed fingernail.
Cutis verticis gyrata. Courtesy of DermNet New Zealand (http://www.dermnetnz.org/assets/Uploads/dermal-infiltrative/cvg2.jpg).

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Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Coauthor(s)

Supriya Goyal, MD Consulting Dermatologist

Supriya Goyal, MD is a member of the following medical societies: Alpha Omega Alpha

Disclosure: Nothing to disclose.

Gregory M Richards, MD Clinical Assistant Professor, Department of Human Oncology, University of Wisconsin School of Medicine and Public Health

Gregory M Richards, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Radiology, American Medical Association, American Roentgen Ray Society, American Society for Radiation Oncology, Radiological Society of North America, American Society of Clinical Oncology

Disclosure: Nothing to disclose.

Rajiv Goyal, MD Radiologist, Department of Radiology, Kaiser Permanente Medical Center

Rajiv Goyal, MD is a member of the following medical societies: American Medical Association, MedChi The Maryland State Medical Society, Radiological Society of North America, Maryland State Medical Society

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD<br/>Served as a speaker for various universities, dermatology societies, and dermatology departments.

Pachydermoperiostosis Clinical Presentation

History

Physical Examination

Complications

References

Tables

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