A patient with joint pains, skin changes and clubbing.

Interesting Rare Case Pictures

A patient with joint pains, skin changes andclubbing

Bhupendra K. Vaishnav a, Bhowmik P. Meghnathi a,Sundeep K. Upadhyaya b,*aDNB Resident, Department of Rheumatology, Indraprastha Apollo Hospitals, New Delhi, IndiabAssociate 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 1e6 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

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 1e6 362

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. GomezRodrıguez N, Ibanez Ruan J, GonzalezPerez M. Primaryhypertrophic osteoarthropathy (pachydermoperiostosis).Report of 2 familial cases and literature review. Rheumatol Clin.2009;5:259e263.

2. Jajic I, Jajic Z. Prevalence of primary hypertrophicosteoarthropathy in selected population. Clin Exp Rheumatol.1992;10:73.

3. Auger M, Stavrianeas N. Pachydermoperiostosis. OrphanetEncycl. 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.

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