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Progressive furrowing of skin with digital clubbing

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Q1: What is the diagnosis?

The diagnosis is primary hypertrophic osteoarthropathy or pachydermoperiostitis or Touraine-Solente-Gole syndrome. The presence of characteristic facial features with cutis verticis gyrata and advanced clubbing of the digits in the absence of any systemic features suggest the diagnosis. Radiological evidence of periostitis of the involved bones helps in confirmation of the diagnosis.

Q2: What are the radiological findings shown?

The radiograph of wrist (see p 541) shows periosteal reaction as shaggy new bone formation around the styloid process of radius. Cortical sclerosis and periosteal thickening are seen along lower ends of the shafts of radius, ulna and metacarpals, proximal and middle phalanges of both hands.

Q3: Which other conditions are to be differentiated clinically from this entity?

This condition has to be differentiated from the secondary form of hypertrophic osteoarthropathy, which occurs in relation to bronchopulmonary and rarely other visceral malignancies, suppurative lung diseases, and congenital heart diseases. Here, facial features are minimal or absent and the osteoarthropathy and digital clubbing are painful.1,2 Associated systemic features are present.

In acromegaly, patients present with similar facial features and cutis verticic gyrata, but in addition, there is prognathism, altered body proportions, change in voice, and visual field defects.1 Hands and feet are spade shaped but clubbing is absent.

In thyroid acropachy, a rare feature of Graves’ disease, facial feature include exophthalmos along with symptoms and signs of hyperthyroidism.1,2 Pretibial myxoedema is usually associated. Enlargement of distal extremities is confined to hands and feet.

In scleromyxoedema, facial features are identical but widening of distal extremities and digital clubbing are absent.1

Discussion

Primary hypertrophic osteoarthropathy is a rare, autosomal dominantly inherited disorder with variable penetrance.1 It affects males predominantly with a sex ratio of 9:1,2 and in about one third cases, family history is positive.2

Learning points

  • Hypertrophic osteoarthropathy secondary to internal malignancy or other systemic illnesses are commoner than primary disease.

  • Secondary hypertrophic osteoarthropathy is usually associated with tenderness of the involved joints and tender digital clubbing.

  • Radiologically, in primary hypertrophic osteoarthropathy, the periosteal new bone formation is coarser than secondary form and extends distally to involve the epiphysis.

Primary hypertrophic osteoarthropathy starts insidiously in childhood or commonly during puberty and is characterised by remarkable cutaneous features, clubbing, and periostitis. Pathogenesis involves abnormalities in collagen synthesis. Fibroblasts from the affected skin are hyperactive with increased synthesis of collagen. Molecular studies reveal evidence of upregulated collagen transcription.2

The skin becomes thick and coarse with prominence of the usual lines of facial expression. Thickness of the eyelids gives rise to the impression of partial ptosis. Seborrhoea, acne, and folliculitis are common. Overgrowth of scalp tissue in relation to underlying skull bone gives rise to cutis verticis gyrata.

Bilateral, symmetrical, distal long bone involvements are seen, initially involving the distal diaphysis of tibia, fibula, radius, ulna, metatarsals, metacarpals, and phalanges.2 In advanced disease, proximal long bones and flat bones of the pelvic and shoulder girdles may also be involved.2 There is periostitis giving rise to radiological features of periarticular, irregular new bone formation and cortical thickening.3 Compared with the secondary form, this is coarser and extends more distally to involve the epiphyses.3 Involvement of musculotendinous insertions and interosseous membranes are also seen in the late stage. Calcification of tendo Achillis is common. These give rise to painful, restricted movement of distal large joints. Soft tissues over wrists and ankles are thickened and associated carpal and tarsal tunnel syndromes are seen.1 Advanced clubbing of the digits and palmoplantar hyperhidrosis hampers the daily activities of life.

There may be associated anomalies like hypertrophic gastropathy and peptic ulcer disease,4 bone marrow failure,2 gynaecomastia,2 and acro-osteolysis of fingers and toes.5 The condition is progressive for 10–15 years and thereafter becomes static.1 Plastic surgical intervention for the facial features improves a patient’s appearance.

Final diagnosis

Primary hypertrophic osteoarthropathy.

References

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