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A patient with joint pains, skin changes and clubbing

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Primary hypertrophic osteoarthropathy (PHO) is a rare syndrome with variable clinical and radiological presentations such as joint pains and swelling, clubbing, seborrheic and thickened facial skin …

Primary hypertrophic osteoarthropathy (PHO) is a rare syndrome with variable clinical and radiological presentations such as joint pains and swelling, clubbing, seborrheic and thickened facial skin and hyperostosis. We present such a case of PHO who was previously diagnosed and treated as inflammatory polyarthritis.

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  • 1. A patient with joint pains, skin changes and clubbing.
  • 2. Interesting Rare Case Pictures A patient with joint pains, skin changes and clubbing Bhupendra K. Vaishnav a , Bhowmik P. Meghnathi a , Sundeep K. Upadhyaya b, * a DNB Resident, Department of Rheumatology, Indraprastha Apollo Hospitals, New Delhi, India b Associate Professor (AHERF) & Senior Consultant Rheumatologist, Department of Rheumatology, Indraprastha Apollo Hospitals, New Delhi, India Keywords: Pachydermoperiostosis Primary hypertrophic osteo- arthropathy Arthralgias Clubbing TouraineeSolenteeGole´ syndrome a b s t r a c t Primary hypertrophic osteoarthropathy (PHO) is a rare syndrome with variable clinical and radiological presentations such as joint pains and swelling, clubbing, seborrheic and thickened facial skin and hyperostosis. We present such a case of PHO who was previously diagnosed and treated as inflammatory polyarthritis. Copyright ª 2014, Indraprastha Medical Corporation Ltd. All rights reserved. 1. History and examination A 22-year-old male, from Nepal, presented with a history of multiple joint pains for last 4e5 years, both small and large joints involvement with occasional early morning stiffness. Weight bearing and mechanical stress exacerbated the joint pains and on examination there were bony prominences over both the wrists and knees. He also had multiple deep furrows over his forehead along with thickened and seborrheic (greasy) skin. His facial folds were also very prominent and examination of his skin also revealed hyperhidrosis. There was gradually progressive clubbing but no Synovitis of any of his joints, fever, cough, breathlessness, hemoptysis, weight loss or any history suggestive of chronic lung disease, bron- chiectasis, carcinoma of lung, chronic liver disease, cyanotic heart disease, inflammatory bowel disease or tuberculosis. For the above-mentioned constellation of signs and symp- toms, he was diagnosed with Rheumatoid Arthritis 2 years ago in Nepal and was initiated on Disease Modifying Anti- Rheumatic Drugs (methotrexate and hydroxychloroquine). Despite 2 years of medications he had no relief in any of his symptoms rather the disease gradually progressed. Hence he presented to the Department of Rheumatology at Indrapras- tha Apollo Hospitals, New Delhi for a second opinion of his diagnosis. The relevant clinical (Fig. 1AeD) and radiology findings (Fig. 2AeD) are shown below. The hematology and blood chemistries were done and were all within normal range with a negative C-Reactive Protein (CRP) and a normal Erythrocyte Sedimentation Rate (ESR) His rheumatoid factor (RF) and Anti-CCP antibody were also negative. Hence a diagnosis of Primary Hypertrophic Osteoarthropathy (PHO) [or Pachydermoperiostosis (PDP)] was made and he was re- assured and prognosticated. He was advised treatment with NonSteroidal Anti-Inflammatory Drugs and physiotherapy following which he noticed improvement in all his symptoms. * Corresponding author. E-mail address: sundeepupadhyaya@hotmail.com (S.K. Upadhyaya). Available online at www.sciencedirect.com ScienceDirect journal homepage: www.elsevier.com/locate/apme a p o l l o m e d i c i n e 1 1 ( 2 0 1 4 ) 6 1 e6 3 0976-0016/$ e see front matter Copyright ª 2014, Indraprastha Medical Corporation Ltd. All rights reserved. http://dx.doi.org/10.1016/j.apme.2014.01.003
  • 3. Fig. 1 e A. Clubbing of fingers, bony swelling at wrist. B. Clubbing of toes. C. Bony swelling at knees. D. Multiple furrows on forehead, thickened and seborrheic skin of face with accentuation of facial folds. Fig. 2 e Radiological features. A. Periosteal thickening of forearm bones. B. Hyperostosis of the calvaria and skull base bones. C. Enlargement of fingers and early acroosteolysis of finger tufts. D. Hyperostosis of long bones of legs and thickening of ankle skin. a p o l l o m e d i c i n e 1 1 ( 2 0 1 4 ) 6 1 e6 362
  • 4. 2. Discussion Primary Hypertrophic Osteoarthropathy (PHO) or Pachy- dermoperiostosis (PDP) is a rare disease and it represents approximately 5% of the total hypertrophic osteoarthropathy cases.1 A prevalence of 0.16% was suggested by Jajic and Jajic.2 In world literature too, approximately 200 cases have been described.3,4 The clinical triad of digital clubbing, ar- thralgias, and ossifying periostitis had been recognized since the late 1800s and was previously known as hypertrophic pulmonary osteoarthropathy (HPOA). It is a syndrome char- acterized by excessive proliferation of skin and bone at the distal parts of extremities and by digital clubbing and peri- ostosis of the long tubular bones. In 1868, PDP was first described by Friedreich as ‘excessive growth of bone of the entire skeleton’. Later Touraine, Solente and Gole´ described PDP as the primary form of bone disease, hypertrophic osteoarthropathy in 1935. 3. Key messages Pachydermoperiostosis is a close mimic of inflammatory arthritis. Although this is a rare disease, clinician should al- ways have a high index of suspicion when a patient presents with arthralgias with associated features such as clubbing, coarse thickened skin and periostosis. But inflammatory arthritis and other secondary causes of clubbing and hyper- ostosis should be ruled out. Conflicts of interest All authors have none to declare. r e f e r e n c e s 1. Go´mezRodrı´guez N, Iba´n˜ ez Rua´n J, Gonza´lezPe´rez M. Primary hypertrophic osteoarthropathy (pachydermoperiostosis). Report of 2 familial cases and literature review. Rheumatol Clin. 2009;5:259e263. 2. Jajic I, Jajic Z. Prevalence of primary hypertrophic osteoarthropathy in selected population. Clin Exp Rheumatol. 1992;10:73. 3. Auger M, Stavrianeas N. Pachydermoperiostosis. Orphanet Encycl. 2004. http://www.orpha.net/data/patho/GB/uk- pachydermoperiostosis.pdf. 4. Castori M, Sinibaldi L, Mingarelli R, Lachman RS, Rimoin DL, Dallapiccola B. Pachydermoperiostosis: an update. Clin Genet. 2005;68:477e486. a p o l l o m e d i c i n e 1 1 ( 2 0 1 4 ) 6 1 e6 3 63
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