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.

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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