Pachydermoperiostosis

Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy (PHO) or Touraine-Solente-Golé syndrome, is a rare genetic disorder characterized by a triad of clinical features: pachydermia (thickening and furrowing of the skin, especially of the face and scalp), periostosis (excessive new bone formation along the long bones), and digital clubbing (enlargement of the fingertips and toes). The condition predominantly affects males and typically begins around puberty, progressing over the following 5 to 20 years before stabilizing. The disease primarily affects the skin, bones, and joints. Skin changes include coarsening and thickening of facial features (leonine facies), deep furrowing of the forehead (cutis verticis gyrata), and excessive sweating (hyperhidrosis) and oiliness (seborrhea). Bone involvement leads to periosteal new bone formation, particularly in the tibiae, fibulae, radii, and ulnae, which can cause bone pain and joint effusions. Patients may also experience arthralgia and limited joint mobility. Some individuals develop myelofibrosis or other hematologic abnormalities. Pachydermoperiostosis is caused by mutations in the HPGD gene (encoding 15-hydroxyprostaglandin dehydrogenase) or the SLCO2A1 gene (encoding a prostaglandin transporter), both of which lead to elevated prostaglandin E2 (PGE2) levels. A third form has been linked to mutations in the ETNPPL gene. Treatment is primarily symptomatic and supportive. NSAIDs and COX-2 inhibitors may help manage bone pain and joint symptoms by reducing prostaglandin levels. Surgical interventions, including cosmetic procedures for facial skin thickening and correction of cutis verticis gyrata, may be considered. Colchicine and bisphosphonates have been used in some cases. There is currently no cure for the condition.

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