Primary hypertrophic osteoarthropathy (pachydermoperiostosis). Report of 2 familial cases and literature review

Pachydermoperiostosis: Complete Form With Rare Dental and New Ocular Changes

“…[5][6][7] Our case is a complete form of this syndrome with presence of all the characteristic clinical and radiological findings. Although this syndrome has association with heredity, [1][2][3][4] but in this case, there is no history of any of the patient's relatives being affected with one or more similar features.…”

Bilateral Ptosis Due to a Rare Cause-Pachydermoperiostosis

“…Mutations in the gene which codes for 15-hydroxyprostaglandin dehydrogenase, the key enzyme which is responsible for prostaglandin degradation, which is located on chromosome 4q 33 4q34, which would lead to high concentrations of prostaglandin E2, a mediator which is involved in the processes of clubbing, skin thickening and periostosis have been described. Increased concentrations of Interleukin 6 have also been found [1].…”

“…Pachydermoperiostosis (Syn:Touraine Solente Gole syndrome, Primary Idiopathic Hypertrophic Osteoarthropathy) is a rare disease which is characterised by a periosteal new bone formation which involves the distal parts of the extremities, clubbing of fingers and toes, a column-like enlargement of lower limbs, swelling or pain of the large joints, excessive sweating of the palms and soles (hyperhidrosis), thickening of the skin, especially over the face and forehead, Cutis verticis gyrata (an undulating grooved and thickened scalp) and hypertrophic gastritis.The common symptoms which make the patients consult the health care provider are joint manifestations and skin changes [1]. Ptosis is a less commonly encountered association.…”

Pachydermoperiostosis: a case report

“…Рас-пространенность пахидер-мопериостоза, согласно данным исследования Jajic, составляет 0,16% [8] и чаще встречается у мужчин, чем у женщин (7:1), отлича-ясь более тяжелым течени-ем [9,10]. Пахидермопериостоз является генетически гете-рогенным заболеванием.…”