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A 40-year-old man and a 29-year-old woman with clubbed fingers and toes and other foot and knee deformities presented with symptoms of pain and paraesthesia in the forearms and hands which were more intense during the night, for 5 and 2 years, respectively. Skeletal X-ray showed general soft-tissue swelling with digital clubbing, irregular periosteal proliferation with cortical thickening of the radii, ulnae, metacarpal and metatarsal bones, phalanges, femur, tibiae and fibulae. Mega-epiphysis of radii, femur and tibiae were also noted (figure). There was no evidence of pulmonary and cardiovascular diseases.
Ultrasound examination excluded, in both cases, the presence of flexor tenosynovitis or arthritis of the wrist. A series of investigations was carried out in order to exclude coexisting diseases such as diabetes, gout or pseudogout, connective tissue diseases, and hyper- or hypothyroidism. Other conditions, such as pregnancy, or mechanical causes were also excluded.
In both cases clinical assessment showed positive Tinel's sign and Phalen's sign, and sensory loss in the index finger and middle finger. Electromyography (abductor pollicis and opponens pollicis muscles) showed prolonged, symmetrical, terminal motor and sensory latencies in the involved median nerve at the wrist.
- What was the skeletal disease in these patients?
- What kind of neurologic disorder affects these patients?
- What are the possible causes of this neurologic disorder?
Carpal tunnel syndrome.
Periosteal proliferation and cortical thickening of the distal epiphysis of radii, resulting in compression of the carpal tunnel.
Carpal tunnel syndrome is produced by compression of the median nerve at the wrist. It is characterised by numbness, tingling and pain in the hand; these symptoms often worsen at night and after use of the hand. The pain and paraesthesia may radiate proximally into the forearm and arm. In cases of severe nerve compression the patient will have sensory loss over some or all of the digits innervated by the median nerve and weakness of abductor pollicis brevis, flexor pollicis brevis, and opponens pollicis. Although clinical assessment should be carried out by eliciting Tinel's sign (paraesthesia in the median territory elicited by gentle tapping over the carpal tunnel) and Phalen's sign (inviting the patient to keep the wrists in forced flexion for 60 s), electrodiagnostic testing is important for the accurate diagnosis of carpal tunnel syndrome and is particularly useful for differential diagnosis and in the presence of coexisting diseases (radiculopathy due to alterations of the cervical spine, diffuse peripheral neuropathy, or proximal median neuropathy).1 In carpal tunnel syndrome the tissue pressure is higher than normal.2 Several causes have been suggested for this increase in tissue pressure (box FB1), including pregnancy, diabetes, flexor tenosynovitis, arthritis, hypothyroidism, amyloidosis, acromegaly, and mycobacterial infections; ischaemia also has a role in carpal tunnel syndrome.
Pachydermoperiostosis or Touraine-Solente- Golé syndrome is the primary or idiopathic form of hypertrophic osteoarthropathy (box FB2). It is a rare disease transmitted by an autosomal dominant gene with variable expression; this often familial disease is characterised by digital clubbing, cylindrical thickening of the legs and forearms, hyperhydrosis, sebaceous gland overactivity and symmetrical irregular periosteal ossification predominantly affecting the distal ends of long bones. The syndrome is associated with thickening and furrowing of the facial features, deep nasolabial folds, a corrugated scalp, and often greasy skin of the face and the scalp.3 4 The disease has not yet been described as a pathological condition associated with carpal tunnel syndrome.
Elective therapy in patients with carpal tunnel syndrome and pachydermoperiostosis should be surgical resection of transverse carpal ligament. In our experience, local corticosteroid injections provide only partial relief of symptoms, since compression of median nerve is due to periosteal and cortical thickening of the distal epiphysis of radii.
This report emphasizes that carpal tunnel syndrome may occur in patients with pachydermoperiostosis. This could be explained by the stenosis of the tunnel, secondary to the periosteal apposition and mega-epiphysis. Clinical and electromyographic investigations to evaluate possible carpal tunnel syndrome should be carefully carried out in patients with pachydermoperiostosis.
Carpal tunnel syndrome due to pachydermoperiostosis.
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