Pachydermoperiostosis (Touraine Solente Gole syndrome)
Another diaphyseal hyperplasia has radiographic and clinical features in common with hypertrophic osteoarthropathy, including clubbing of the digits, painful swollen joints, and periosteal bony apposition, but it is also associated with thickened, wrinkled elephant-like skin.
A literal translation of the term describes the major clinical manifestations of the disorder, which includes digital clubbing, thickening of the skin of the face and folds in the scalp, excessive sweating of hands and feet, and periostitis. It can mimic acromegaly. It usually begins at puberty and progresses over the next 10 years. The genetic mutation responsible involves HPGD on chromosome 4, which encodes 15-hydroxyprostaglandin dehydrogenase and is responsible for prostaglandin degradation. The mutation leads to a lack of enzyme function resulting in persistently elevated prostaglandin E 2 levels. A similar syndrome has also been reported in patients with a deficiency of a solute carrier involved in prostaglandin transport caused by mutations in the SLC02A1 gene. Treatment is with nonsteroidal antiinflammatory drugs to block prostaglandin production.