PACHYDERMOPERIOSTOSIS

Pachydermoperiostosis (Friedreich-Erb-Arnold syndrome, Touraine-Solente-Gole syndrome) is a rare disease with an autosomal dominant mode of unheritance; it occurs almost exclusively in men. A report of typical pachydermoperiostosis in a 31-year-old man is presented. Associated features were clubbed digits of the hands and feet with watch-crystal nails, thickening of the skin and soft tissues, hyperhidrosis of hands and feet, hyperplasia of the sebaceous glands with seborrhoea, gynaecomastia, and ophthalmic abnormalities that had been present since puberty. Radiological examination revealed periosteal hyperostosis of the short and long bones. Endocrine disturbances were not detected. Skin biopsies showed hypertrophy of the skin and skin appendages. Primary (idiopathic, hereditary) pachydermoperiostosis should be distinguished from secondary (symptomatic) forms of the disease, which are often associated with lung tumours.