Pseudoacromegaly in pachydermoperiostosis.

To cite: Chakraborty PP, Bhattacharjee R, Mukhopadhyay S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016214624 DESCRIPTION A 19-year-old male patient presented with a yearlong history of progressive painful enlargement of his hands and feet associated with excessive sweating and greasiness of the face, palms and soles. He also noticed pain over his wrists and ankles without any symptoms suggestive of raised intracranial tension and no recent increase in height. Family history was unremarkable. Clinical examination revealed enlargement of hands and feet with digital clubbing and spade-like appearance of the hands (figures 1 and 2). The eyelids were hypertrophied with partial drooping of the upper eyelids. The skin over the patient’s face and extremities was coarse, moist and oily, suggestive of excessive sebum secretion. He had no prognathism and no obvious furrowing of skin over face or scalp. Systemic examination was unremarkable. Baseline investigations were normal. A detailed hormonal evaluation including the growth hormone (GH) insulin-like growth factor 1 (IGF1) axis, thyroid functions, and fasting and postmeal serum insulin levels, were within reference range. Radiographs of the hands, feet and long bones revealed subperiosteal new bone formation with irregular outline of the cortical surfaces of the phalanges, metacarpals and long bones (figure 3). The heel pad thickness on lateral foot X-ray was 19 mm (normal <21 mm) (figure 4). A thorough search for underlying heart disease, or a neoplastic or infectious process, with chest X-ray, echocardiography, CT of the thorax and abdomen, barium studies and upper and lower gastrointestinal endoscopies being negative, was unsuccessful. The patient was initially put on oral nonsteroidal anti-inflammatory drugs (NSAID) for pain relief. However, because of poor response to the NSAIDs, intravenous zoledronic acid was added, after which he noticed significant subjective improvement about 1 week after a single 5 mg infusion. Although we did not notice definite radiological regression of the periostitis after 3 months, keeping in mind the patient’s symptomatic relief, repeat administration of zoledronic acid at yearly intervals has been planned. Acromegaly is characterised by soft tissue and bony overgrowth due to increased activity of the GH-IGF1 axis. Patients with physical appearance mimicking acromegaly but with an intact somatotroph axis are said to have pseudoacromegaly. Pachydermoperiostosis, also known as primary hypertrophic osteoarthropathy, or TouraineSolente-Golé syndrome, is a rare syndrome characterised by subperiosteal new bone formation, digital clubbing, coarsening of facial features with thickening, furrowing and oiliness of the facial skin, and a resultant acromegaloid appearance. In