Touraine-Solente-Gole syndrome: The complete form needs to be recognized

Abstract

The primary hypertrophic osteoarthropathy (HOA) (pachydermoperiostosis) is a rare hereditary disease characterized by skin manifestations (pachydermia), digital clubbing and proliferation of periosteum (periostitis) with sub-periosteal new bone formation. We describe here a case who presented with seborrheic dermatitis and joint pain of both hands on work up matched satisfactorily with the complete form of primary HOA. The identification of secondary form being relatively common among clinicians and hence the importance of recognizing the primary form, which is a difficult to treat condition is discussed here.

Keywords: Pachydermoperiostosis; Touraine-Solente-Gole syndrome; primary hypertrophic osteoarthropathy.

Figure 1

Greasy and coarse skin with deep furrowed forehead skin with ptosis of both eyelid

Figure 2

Pandigital clubbing of both hands

Figure 3a

Pandigital clubbing of both feet with bulbous enlargement of all toes

Figure 3b

Hypertrophied thumb of this patient in comparison with the normal thumb

Figure 4

Radiograph of both hands and wrists showed increase in soft tissue around terminal phalanges with hypertrophy of distal tufts and periosteal thickening in all metacarpals including proximal and middle phalanges

Figure 5

X-ray of both forearm showed symmetric exuberant irregular sub-periosteal bone formation with cortical thickening in both radius and ulna and there is interosseus membrane ossification in Lt forearm

Figure 6

X-ray of both tibia and fibula showed gross irregularities and intense periosteal proliferation throughout the shaft including epiphysis and resultant broadening of the epiphysis

Figure 7

(a, b) ^99mTc MDP bone scintigraphy performed following standard protocols after i.v., administration of 20 mCi activity shows diffusely increased and almost symmetrical pericortical uptake in the entire skeletal system prominently involving the shaft of all long bones