eMedicine Specialties > Dermatology > Diseases of the Dermis

Pachydermoperiostosis

Author: Supriya Goyal, MD, Consulting Dermatologist
Coauthor(s): Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School; Gregory M Richards, MD, Staff Physician, Department of Human Oncology, University of Wisconsin School of Medicine and Public Health; Instructor of Radiotherapy Technology (RT 412), University of Wisconsin; Rajiv Goyal, MD, Consulting Radiologist, Department of Radiology, Kaiser Permanente Medical Center
Contributor Information and Disclosures

Updated: Oct 10, 2008

Introduction

Background

Hypertrophic osteoarthropathy is divided into primary and secondary forms. Pachydermoperiostosis (PDP), the primary form, accounts for 5% of all cases of hypertrophic osteoarthropathy. Secondary hypertrophic osteoarthropathy, also called pulmonary hypertrophic osteoarthropathy, is associated with underlying cardiopulmonary diseases and malignancies.1 This latter condition is not discussed here but may be found in the article Dermatologic Manifestations of Pulmonary Disease.

Pachydermoperiostosis or primary hypertropic osteoarthropathy is a rare hereditary disorder that was first described in 1868. It is characterized by digital clubbing, pachydermia (thickening of the facial skin and/or scalp), and periostosis (swelling of periarticular tissue and subperiosteal new bone formation). Pachydermoperiostosis or primary hypertropic osteoarthropathy is associated with pain, polyarthritis, cutis verticis gyrata, seborrhea, eyelid ptosis,2,3 and hyperhidrosis. Touraine et al4 described 3 forms of pachydermoperiostosis or primary hypertropic osteoarthropathy: (1) a complete form with pachydermia and periostitis, (2) an incomplete form with evidence of bone abnormalities but lacking pachydermia, and (3) a forme fruste with prominent pachydermia and minimal-to-absent skeletal changes.

Pathophysiology

As reported in 2008, pachydermoperiostosis or primary hypertropic osteoarthropathy has been mapped to band 4q33-q34. Mutations in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase, the main enzyme of prostaglandin degradation, have been identified.5

Frequency

United States

Pachydermoperiostosis or primary hypertropic osteoarthropathy is a rare disorder, and the precise incidence is unknown.

Mortality/Morbidity

Although progression of pachydermoperiostosis or primary hypertropic osteoarthropathy typically ceases after 5-20 years, the disorder can result in significant morbidity. Patients may develop disabilities, which include severe kyphosis, restricted motion, and neurologic manifestations. Life expectancy may be normal, except in cases in which severe mental impairment is involved.

Race

Pachydermoperiostosis or primary hypertropic osteoarthropathy is more common in African Americans than in whites.

Sex

The male-to-female case ratio is approximately 7:1. Typically, men are affected more severely than women. Women often have milder findings, and their disease may remain undetected.

Age

Pachydermoperiostosis or primary hypertropic osteoarthropathy typically begins during childhood or adolescence and progresses gradually over the next 5-20 years before stabilizing.

Clinical

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

Skin, hair, and nail examination may reveal the following:

  • Digital clubbing and/or paronychial thickening may be observed.
  • Coarse facial features may be reminiscent of acromegaly. 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.
  • 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.

Causes

Pachydermoperiostosis or primary hypertropic osteoarthropathy is often familial. The condition is believed to be inherited in an autosomal dominant pattern with variable penetrance; however, autosomal recessive forms have been reported.

Pachydermoperiostosis or primary hypertropic osteoarthropathy has been mapped to band 4q33-q34, and mutations in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase, the key enzyme of prostaglandin degradation, have been identified. Individuals with homozygous mutations have chronically elevated prostaglandin E2 levels. Milder biochemical and clinical manifestations are found in heterozygous individuals.

Vascular endothelial growth factor is abnormally expressed in some patients with pachydermoperiostosis or primary hypertropic osteoarthropathy.

Increased levels of interleukin 6 and receptor activator of nuclear factor–kappaB ligand (RANKL) have been reported in the serum of a patient with pachydermoperiostosis or primary hypertropic osteoarthropathy during the acute phase of the disease.6

Pachydermoperiostosis or primary hypertropic osteoarthropathy has been associated in case reports with a variety of other disorders, including the following:

  • Gastrointestinal pathology,7 including gastric carcinoma, Crohn disease, peptic ulcer disease, chronic gastritis, Ménétrièr disease,8 and protein-losing enteropathy9
  • Myelofibrosis10,11,12
  • Gynecomastia13
  • Compressive neuropathy
  • Hypoplastic internal genitalia
  • Psoriatic onychopathy14
  • Periodontal and alveolar bone abnormalities15
  • Spondylolisthesis of the L5-S1 vertebrae
  • Congenital cardiac disease16,17
  • Atherothrombotic brain infarction18
  • Osteoporosis13
  • Rheumatoid arthritis19
  • Ankylosing spondylitis20
  • En coup de sabre (a form of localized scleroderma)21

In certain instances, several years after the onset pachydermoperiostosis or primary hypertropic osteoarthropathy, diseases generally known to result in secondary hypertrophic osteoarthropathy (Crohn disease, myelofibrosis, and congenital cardiac disease) have been reported to develop in patients with pachydermoperiostosis or primary hypertropic osteoarthropathy.22

More on Pachydermoperiostosis

Overview: Pachydermoperiostosis
Differential Diagnoses & Workup: Pachydermoperiostosis
Treatment & Medication: Pachydermoperiostosis
Follow-up: Pachydermoperiostosis
References
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References

  1. Lowenthal MN, Tombak A, Lowenthal A. Secondary hypertrophic osteoarthropathy (HOA) mimicking primary HOA (pachydermoperiostitis or Touraine-Solente-Golé) syndrome. Isr Med Assoc J. Jan 2004;6(1):64. [Medline].

  2. Alves AP, Holanda Filha JG, et al. [Eyelid ptosis associated with pachydermoperiostosis: case report.]. Arq Bras Oftalmol. May-Jun 2005;68(3):401-4. [Medline].

  3. Arinci A, Tümerdem B, Karan MA, et al. Ptosis caused by pachydermoperiostosis. Ann Plast Surg. Sep 2002;49(3):322-5. [Medline].

  4. Touraine A, Solente G, Gole L. Un syndrome osteodermopathique: la pachydermie plicaturee avec pachyperiostose ds extremites. Presse Med. 1935;43:1820-4.

  5. Uppal S, Diggle CP, Carr IM, et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. Jun 2008;40(6):789-93. [Medline].

  6. 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. May-Jun 2008;37(3):225-9. [Medline].

  7. 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. [Medline].

  8. Lakshmi TS, Rao PN, Nagaria M. Primary pachydermoperiostosis associated with Menetrier's disease. Indian J Dermatol Venereol Leprol. Sep-Oct 2001;67(5):256-8. [Medline].

  9. Sethuraman G, Malhotra AK, Khaitan BK, et al. Familial pachydermoperiostosis in association with protein-losing enteropathy. Clin Exp Dermatol. Jul 2006;31(4):531-4. [Medline].

  10. Bachmeyer C, Blum L, Cadranel JF, et al. Myelofibrosis in a patient with pachydermoperiostosis. Clin Exp Dermatol. Nov 2005;30(6):646-8. [Medline].

  11. Kumar U, Bhatt SP, Misra A. Unusual associations of pachydermoperiostosis: A case report. Indian J Med Sci. Feb 2008;62(2):65-8. [Medline].

  12. Saghafi M, Azarian A, Nohesara N. Primary hypertrophic osteoarthropathy with myelofibrosis. Rheumatol Int. Apr 2008;28(6):597-600. [Medline].

  13. Ukinc K, Ersoz HO, Erem C, et al. Pachydermoperiostosis with gynecomastia and osteoporosis: a rare case with a rare presentation. Int J Clin Pract. Nov 2007;61(11):1939-40. [Medline].

  14. Fietta P, Manganelli P. Pachydermoperiostosis and psoriatic onychopathy: an unusual association. J Eur Acad Dermatol Venereol. Jan 2003;17(1):73-6. [Medline].

  15. Akdeniz BG, Seckin T. Periodontal and alveolar bone abnormalities associated with pachydermoperiostosis. Periodontal Clin Investig. 2001;23(1):5-10. [Medline].

  16. Levin SE, Harrisberg JR, Govendrageloo K. Familial primary hypertrophic osteoarthropathy in association with congenital cardiac disease. Cardiol Young. May 2002;12(3):304-7. [Medline].

  17. Sinha GP, Curtis P, Haigh D, et al. Pachydermoperiostosis in childhood. Br J Rheumatol. Nov 1997;36(11):1224-7. [Medline].

  18. Nakajima M, Hirano T, Itoh K, et al. Atherothrombotic brain infarction in a patient with pachydermoperiostosis. Mod Rheumatol. 2008;18(3):281-4. [Medline].

  19. Diamond S, Momeni M. Primary hypertrophic osteoarthropathy in a patient with rheumatoid arthritis. J Clin Rheumatol. Aug 2007;13(4):242-3. [Medline].

  20. Shinjo SK, Borba EF, Gonçalves CR, et al. Ankylosing spondylitis in a patient with primary hypertrophic osteoarthropathy. J Clin Rheumatol. Jun 2007;13(3):175. [Medline].

  21. Ozdemir M, Yildirim S, Mevlitoglu I. En coup de sabre accompanied by pachydermoperiostosis: a case report. Clin Exp Rheumatol. Mar-Apr 2007;25(2):315-7. [Medline].

  22. Martinez-Lavin M, Vargas A, Rivera-Vinas M. Hypertrophic osteoarthropathy: a palindrome with a pathogenic connotation. Curr Opin Rheumatol. Jan 2008;20(1):88-91. [Medline].

  23. Reginato AJ, Schiapachasse V, Guerrero R. Familial idiopathic hypertrophic osteoarthropathy and cranial suture defects in children. Skeletal Radiol. 1982;8(2):105-9. [Medline].

  24. Seggewiss R, Hess T, Fiehn C. A family with a variant form of primary hypertrophic osteoarthropathy restricted to the lower extremities. Joint Bone Spine. Jun 2003;70(3):230-3. [Medline].

  25. Hedayati H, Barmada R, Skosey JL. Acrolysis in pachydermoperiostosis. Primary or idiopathic hypertrophic osteoarthropathy. Arch Intern Med. Aug 1980;140(8):1087-8. [Medline].

  26. Herbert DA, Fessel WJ. Idiopathic hypertrophic osteoarthropathy (pachydermoperiostosis). West J Med. Apr 1981;134(4):354-7. [Medline].

  27. Jajic Z, Jajic I, Nemcic T. Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. Arch Med Res. Mar-Apr 2001;32(2):136-42. [Medline].

  28. Fam AG, Chin-Sang H, Ramsay CA. Pachydermoperiostosis: scintigraphic, thermographic, plethysmographic, and capillaroscopic observations. Ann Rheum Dis. Feb 1983;42(1):98-102. [Medline].

  29. Bhansali A, Singh R, Sriraam M, et al. Pachydermoperiostitis and bisphosphonates. J Assoc Physicians India. Apr 2006;54:340. [Medline].

  30. Guyot-Drouot MH, Solau-Gervais E, Cortet B, et a;. Rheumatologic manifestations of pachydermoperiostosis and preliminary experience with bisphosphonates. J Rheumatol. Oct 2000;27(10):2418-23. [Medline].

  31. Maeda H, Kumagai K, Konishi F, et al. Successful treatment of arthralgia with tamoxifen citrate in a patient with pachydermoperiostosis. Rheumatology (Oxford). Oct 2000;39(10):1158-9. [Medline].

  32. Okten A, Mungan I, Kalyoncu M, et al. Two cases with pachydermoperiostosis and discussion of tamoxifen citrate treatment for arthralgia. Clin Rheumatol. Jan 2007;26(1):8-11. [Medline].

  33. 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. [Medline].

  34. 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. [Medline].

  35. 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. Sep 15 2003;112(4):1189-91. [Medline].

  36. Seyhan T, Ozerdem OR, Aliagaoglu C. Severe complete pachydermoperiostosis (Touraine-Solente-Golé syndrome). Dermatol Surg. Nov 2005;31(11 Pt 1):1465-7. [Medline].

  37. Bruner S, Frerichs O, Raute-Kreinsen U, et al. [Correction of finger clubbing in primary hypertrophic osteoarthropathy (Touraine-Solente-Gole syndrome)]. Handchir Mikrochir Plast Chir. Apr 2007;39(2):135-8. [Medline].

  38. Bhaskaranand K, Shetty RR, Bhat AK. Pachydermoperiostosis: Three case reports. J Orthop Surg (Hong Kong). Jun 2001;9(1):61-66. [Medline].

  39. Castori M, Sinibaldi L, Mingarelli R, et al. Pachydermoperiostosis: an update. Clin Genet. Dec 2005;68(6):477-86. [Medline].

  40. Jajic I, Jajic Z, Grazio S. Minor but important symptoms and signs in primary hypertrophic osteoarthropathy. Clin Exp Rheumatol. May-Jun 2001;19(3):357-8. [Medline].

  41. Oikarinen A, Palatsi R, Kylmaniemi M, et al. Pachydermoperiostosis: analysis of the connective tissue abnormality in one family. J Am Acad Dermatol. Dec 1994;31(6):947-53. [Medline].

  42. Rezgui-Marhoul L, Douira-Khomsi W, Bouslama K, et al. [Pachydermoperiostosis: a report of two cases]. J Radiol. Mar 2005;86(3):340-3. [Medline].

  43. Sarkar RN, Banerjee S, Kundu AK, et al. Primary hypertrophic osteoarthropathy. J Assoc Physicians India. Nov 1999;47(11):1106-7. [Medline].

  44. Siddiqui MS. Touraine-Solente-Gole syndrome. Saudi Med J. Jun 2004;25(6):808. [Medline].

  45. Thappa DM, Sethuraman G, Kumar GR, et al. Primary pachydermoperiostosis: a case report. J Dermatol. Feb 2000;27(2):106-9. [Medline].

  46. Viola IC, Joffe S, Brent LH. Primary hypertrophic osteoarthropathy. J Rheumatol. Jun 2000;27(6):1562-3. [Medline].

  47. Vogla A, Goldfischer S. Pachydermoperiostosis. Primary or idiopathic hypertrophic osteoarthropathy. Am J Med. Aug 1962;33:166-87. [Medline].

  48. Wright-Pascoe RA, Arscott G. Visual vignette. Primary pachydermoperiostosis or Touraine-Solente-Golé syndrome. Endocr Pract. Sep-Oct 2003;9(5):476. [Medline].

  49. Yu YL, Turck WP. Pachydermoperiostosis (idiopathic hypertrophic osteoarthropathy). Postgrad Med J. Aug 1981;57(670):521-4. [Medline].

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Further Reading

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Keywords

pachydermoperiostosis, hypertrophic osteoarthropathy, primary hypertrophic osteoarthropathy, idiopathic hypertrophic osteoarthropathy, hereditary hypertrophic osteoarthropathy, Touraine-Solente-Gole syndrome, osteoarthropathy, PDP, pachydermia

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Contributor Information and Disclosures

Author

Supriya Goyal, MD, Consulting Dermatologist
Supriya Goyal, MD is a member of the following medical societies: Alpha Omega Alpha
Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

Gregory M Richards, MD, Staff Physician, Department of Human Oncology, University of Wisconsin School of Medicine and Public Health; Instructor of Radiotherapy Technology (RT 412), University of Wisconsin
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 of Clinical Oncology, American Society of Therapeutic Radiation Oncology, and Radiological Society of North America
Disclosure: Nothing to disclose.

Rajiv Goyal, MD, Consulting Radiologist, Department of Radiology, Kaiser Permanente Medical Center
Rajiv Goyal, MD is a member of the following medical societies: American Medical Association, American Roentgen Ray Society, and Radiological Society of North America
Disclosure: Nothing to disclose.

Medical Editor

Michelle Pelle, MD, Clinical Assistant Professor, Division of Dermatology, Department of Medicine, University of California at San Diego
Michelle Pelle, MD is a member of the following medical societies: American Academy of Dermatology, California Medical Association, Medical Dermatology Society, and Pennsylvania Medical Society
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: 3M Pharmaceutical Grant/research funds Other; Graceway Pharmaceuticals Grant/research funds Other

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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