ABSTRACT

Touraine-Solente-Gole syndrome, also known as pachydermoperiostosis, is transmitted as an autosomal recessive trait. It is characterized by enlargement of fingers and toes, pachyderma, excessive sweating, and pain. In this paper, we present a 9-year-old patient to attract attention to this rare disease. A 9-year-old female patient was brought to our outpatient clinics with sweating and enlargement of hands and feet. She was the fourth child born to consanguineous parents. Her 26-year-old elder sister also had the same symptoms. Her physical examination revealed clubbing of the hands, and thick and sweating fingers. Her test results were unremarkable. Hand x-ray revealed epiphyseal, and metaphyseal thickening of the hands, and periostal hyperosteosis. Pachydermoperiostosis usually begins in childhood, progresses till 20 years of age, then, ceases. Delayed closure of fontanelles, and patent ductus arteriosus may be symptoms of the disease.

Patients with deletions and mutations in HPGD (15-hydroxy prostaglandin dehydrogenase) gene (4q33-q34) demonstrate this phenotype. This syndrome is more frequent in females, and mimics rheumatic diseases. Ibuprofen therapy may be used for bone pain. Colchicine is the alternative treatment. In cases of excessive hand and feet sweating associated with clubbed fingers pachydermoperiostosis should be brought to mind.