The many symptoms of pachydermoperiostosis.
Radiographs of the hands and wrists revealed thickened cortical bone at the distal ends of the radius and ulna, sub-periosteal reaction along the metacarpal shafts and distal ends of the radius and ulna, and tufting at the distal phalanges (Fig. 2). Similar changes were present in radiographs of the ankle and proximal tibia.
The absence of an underlying cause and the genetic history prompted a diagnosis of pachydermoperostosis or primary hypertrophic osteoarthropathy.
Hypertrophic osteoarthropathy (HOA) includes: pachydermoperiostosis, the primary form of which accounts for 5% of cases; and secondary HOA, 80% of which cases are associated with primary or metastatic pulmonary malignancies (and therefore previously called hypertrophic pulmonary osteoarthropathy). Other associations include intrathoracic lymphoma, rheumatic diseases such as systemic vasculitis, congenital cardiac disease, nasopharyngeal carcinoma, inflammatory bowel disease, and infections such as tuberculosis, subacute bacterial endocarditis and human immunodeficiency virus (HIV).
Primary HOA is rare and often familial, transmitted as autosomal dominant with variable penetrance. Autosomal recessive cases have been reported. There is a male:female predominance of 7:1. First recognised by Touraine, Solente and Gole in 1935, it is also referred to as Touraine-Solente-Gole syndrome.
Idiopathic HOA is characterised by periosteal new bone formation, clubbing, swelling of joints and thickened, furrowed skin. Skin manifestations include coarse facial features reminiscent of acromegaly. Bony changes consist of symmetrical irregular periosteal hypertrophy with new bone formation. Acro-osteolysis is also reported.
[FIGURE 1 OMITTED]
[FIGURE 2 OMITTED]
The differential diagnosis includes secondary HOA, acromegaly, thyroid acropachy and syphilitic periostitis.
Treatment includes the following: non-steroidal anti-inflammatory drugs; bisphosphonates have been used with success; pamidronate; tamoxifen; raloxifene with synovectomy; vagotomy may improve articular pain and swelling; and plastic surgery may improve cosmesis for the face and digital clubbing. The patient should be reassured that the condition follows an otherwise benign course.
The patient provided written consent for publication.
(1.) Kasper DL, Braunwald E, Fauci AS. Harrison's Principles of Internal Medicine. 16th ed. New York: McGraw Hill, 2005: 2061-2063.
(2.) Matucci-Cerinic M, Cinti S, Morroni M, et al. Pachydermoperiostosis (primary hypertrophic osteoarthropathy): report of a case with evidence of endothelial and connective tissue involvement. Ann Rheum Dis 1989, 48: 240-246.
(3.) Doucilas G. Carroll, JR. Curvature of the nails , clubbing of the fingers and hypertrophic pulmonary osteoarthropathy. J Appl Physiol 1948; 1: 458-468.
(4.) Touraine A, Solente G, Gole L. Un syndrome osteodermopathique: la pachydermie plicaturee avec pachyperiostose des extremites. Presse Med 1935; 43: 1820.
(5.) Savin JA. Incomplete pachydermoperiostosis. Proc Roy Soc Med 1968; 61: 239-240.
(6.) Yu L, Turck WPG. Pachydermoperiostosis (idiopathic hypertrophic osteoarthropathy). Postgrad Med J 1981; 5: 521-524.
(7.) Herbert DA, Fessel WJ. Idiopathic hypertrophic osteoarthropathy (pachydermoperiostosis) West Afr J Med 1981; 134: 357-361.
(8.) Findlay GH, Oosthuizen WJ. Pachydermoperiostosis (syndrome of Touraine, Solente and Gole). S Afr Med J 1951; 25: 747.
Dr Bilal Abdool-Gafoor is a registrar in the Department of Internal Medicine at King Edward Hospital, Durban, and of the University of Natal - Nelson Mandela School of Medicine.
Corresponding author: B Abdool-Gafoor (email@example.com)
|Printer friendly Cite/link Email Feedback|
|Title Annotation:||CLINICAL IMAGES|
|Publication:||South African Medical Journal|
|Date:||Apr 1, 2010|
|Previous Article:||Termination of pregnancy and children: consent and confidentiality issues.|
|Next Article:||Measles in antiquity and the Middle Ages.|