J Rheum Dis.  2015 Aug;22(4):256-259. 10.4078/jrd.2015.22.4.256.

A Case of Pachydermoperiostosis Combined with Undifferentiated Arthritis

• Lee JH
• Hong SP
• Ko JK
• Lee EY
• Lee KL
• Chung SJ
• Koo GW
• Bang SY
• Lee HS

• KMID: 2222858
• DOI: http://doi.org/10.4078/jrd.2015.22.4.256

Abstract

Pachydermoperiostosis (PDP) is a primary hypertrophic osteoarthropathy characterized by digital clubbing, pachydermia, and periostosis, which is inherited as an autosomal dominant or recessive trait. We report on a patient suffering from bilateral knee arthritis for 6 years who was newly diagnosed as PDP. PDP was confirmed by bilateral digital clubbing, hyperhidrosis, and cutis verticis gyrata, findings of pachydermatosis on the forehead and scalp, X-ray findings of proliferative periostitis. This case indicates that PDP is one of several possible rare diseases that should be considered in patients with undifferentiated arthritis.

Keyword

Pachydermoperiostosis; Primary hypertrophic osteoarthropathy; Undifferentiated arthritis

MeSH Terms

Arthritis*
Forehead
Humans
Hyperhidrosis
Knee
Osteoarthropathy, Primary Hypertrophic*
Periostitis
Rare Diseases
Scalp

Figure

• 

  Figure 1. Sacroiliac joint radiography showing suspicious sclerosis with some erosions suggestive of bilateral grade II sacroiliitis; (A) right, (B) left.

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  Figure 2. Enlargement of the hands with digital clubbing.

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  Figure 3. Cutis verticis gyrate, forehead.

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  Figure 4. Proliferative periostitis in the diaphysis of the middle phalanges and proximal phalanges of bilateral digits (arrows).

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  Figure 5. Hypertrophic arthropathy involving bilateral knee joints.

Reference

1. Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet. 2008; 40:789–93.

2. Zhang Z, Xia W, He J, Zhang Z, Ke Y, Yue H, et al. Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet. 2012; 90:125–32.

3. Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T, et al. Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype-gen-otype correlation in Japanese patients with pachydermoperiostosis. J Dermatol Sci. 2012; 68:36–44.

4. Matucci-Cerinic M, Lotti T, Jajic I, Pignone A, Bussani C, Cagnoni M. The clinical spectrum of pachydermoperiostosis (primary hypertrophic osteoarthropathy). Medicine (Baltimore). 1991; 70:208–14.

5. Jajic Z, Jajic I, Nemcic T. Primary hypertrophic osteoarthropathy: clinical, radiologic, and scintigraphic characteristics. Arch Med Res. 2001; 32:136–42.

6. 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 Dermatol. 1994; 31:947–53.

7. Martinez-Lavin M. Pachydermoperiostosis. Best Pract Res Clin Rheumatol. 2011; 25:727–34.

8. Sinibaldi L, Harifi G, Bottillo I, Iannicelli M, El Hassani S, Brancati F, et al. A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. Clin Exp Rheumatol. 2010; 28:153–7.

9. Vogl A, Goldfischer S. Pachydermoperiostosis. Primary or idiopathic hypertrophic osteoarthropathy. Am J Med. 1962; 33:166–87.

10. Rimoin DL. Pachydermoperiostosis (idiopathic clubbing and periostosis): genetic and physiologic considerations. N Engl J Med. 1965; 272:923–31.

11. Akoglu H, Akoglu G, Yuksel C, Dede F, Yenigun EC, Ozturk R, et al. Pachydermoperiostosis with myelofibrosis and renal amyloid A amyloidosis. J Clin Rheumatol. 2009; 15:414–6.

12. Sinha GP, Curtis P, Haigh D, Lealman GT, Dodds W, Bennett CP. Pachydermoperiostosis in childhood. Br J Rheumatol. 1997; 36:1224–7.

13. Akdeniz BG, Seçkin T. Periodontal and alveolar bone abnormalities associated with pachydermoperiostosis. Periodontal Clin Investig. 2001; 23:5–10.

14. Saghafi M, Azarian A, Nohesara N. Primary hypertrophic osteoarthropathy with myelofibrosis. Rheumatol Int. 2008; 28:597–600.