Melancholic Face Since Puberty; A Rare Case Report Of Primary Hypertrophic Osteoarthropathy

Abstract

Pachydermoperiostosis or Touraine-Solente-Gole syndrome is a rare genetic disorder that follows autosomal dominant pattern of inheritance, wherein males are more commonly affected than females. The prevalence of the disease in the general population is about 0.16%. It is characterized by diffuse thickening of skin and subcutaneous tissue of distal extremities, coarsening of facial features, spade like enlargement of hand with clubbing of digits and excessive sweating. We hereby present a rare case report of pachydermoperiostosis with little skeletal involvement. The diagnosis was made by considering the clinical appearance of patient and ruling out other causes of hypertrophic osteoarthropathy. Primary hypertrophic osteoarthropathy constitutes about only 5% of all cases of hypertrophic osteoarthropathy; lack of awareness of this entity can lead to confusion and misdiagnosis.