Introduction Hypertrophic osteoarthropathy is a syndrome characterized by clubbing of the fingers and toes, periostosis of long bones, pain and swelling of the joints, and, in more advanced instances, pachydermia. The syndrome is often secondary to cardio-pulmonary or intestinal diseases.The primary form, known as pachydermoperiostosis, is a rare genetic disorder with autosomal dominant (with i...

Introduction Autosomal recessive primary hypertrophic osteoathropathy (PHO), also known as pachydermoperiostosis (PDP), is a rare genetic disease characterized by clubbing of the fingers, arthritis, periostosis and pachydermia and results from mutations in 15-hydroxyprostaglandin dehydrogenase (HPGD). Recessive mutations in 15-hydroxyprostaglandin dehydrogenase in PHO subjects. has been identif...

Key-words Disease name and synonyms Definition/ Diagnosis criteria History Epidemiology Differential diagnosis Etiology Clinical description Physiopathology Diagnostic methods Genetic counselling Treatment References