Pierre Marie-Bamberger syndrome (secondary hypertrophic osteoarthropathy)

A 55-year-old man presented to our Department with a 1 0-year history of coarsening of the facial features. The soft tissue of the forehead had become progressively thickened and corrugated, resulting in marked, hard-elastic asymmetrical convolutions involving the underlying eyelids, with partial reduction of the visual field (Fig. 1a,b).The patient also exhibited moderately prominent nasolabial folds, pachydermia of the hands and feet without nail changes, significant seborrhoea and palmo-plantar hyperhydrosis. A 20-year history of chronic obstructive pulmonary disease and emphysema, recently complicated by chronic cor pulmonale, and obesity were present. No family history of similar disorders was reported. Routine blood tests, including full blood count, serum urea, creatinine, calcium, phosphorus, magnesium and electrolyte concentrations and tests of liver function, were normal. Hormonal investigations for testosterone, free triiodothyronine (FT3), free thyroxine (FT4), thyroid stimulating hormone (TSH) and growth hormone (GH) responses to stimulation and suppression tests were within normal limits, as was the evaluation of bone metabolism. Haematoxylin-eosin-stained microsections prepared from a biopsy of the frontal region showed hypertrophic sebaceous glands, with a perifollicular nodule of fibrovascular hyperplasia, and hypertrophy of collagen; another specimen, obtained from the finger, displayed hyper-orthokeratotic epidermis with few elastic fibers in the dermis, and a mild perivascular inflammatory infiltrate. A radiological examination of the arms (Fig. 2) and legs revealed a tubular shape of the diaphysis of the long bones, with marked diffuse subperiostal new bone formation, resulting in cortical thickening of the distal ends. Soft tissue thickening around the joints was also evident. © 2004 The International Society of Dermatology.