Familial Touraine-Solente-Gole syndrome

Touraine-Solente-Gole syndrome is a rare, autosomal dominant multisystem disorder arising from dysregulated prostaglandin synthesis due to underlying genetic defects. Early symptoms are related to skin and soft tissue involvement (coarse facial features, widening of wrists, etc) and may thus be overlooked unless a careful physical examination is carried out. Secondary causes of pachydermoperiosteitis must always be looked for in such patients. During evaluation, a systemic review of all organ systems should be carried out to identify asymptomatic or subclinical involvement of organ systems and identify means to avoid disease progression. Treatment options are limited to steroids and non-steroidal anti-inflammatory drugs. In the absence of definitive guidelines, clinical decisions are largely case based, with no definite duration of drug therapy or screening of potential malignancies outlined in current literature. Mental health and social rehabilitation of these patients due to their disfiguring deformities are an unmet need.