Touraine's Hereditary Polyfibromatosis

Touraine's hereditary polyfibromatosis is a rare autosomal dominant disease characterized by the appearance of multiple benign connective tissue tumors (fibromas).

The disease was first described by the French dermatologist Jean-Alfred Fournier in 1882. In 1926, the French neurologist and psychiatrist Henri Touraine described in detail the clinical manifestations and inheritance features of this condition, and therefore the disease began to bear his name.

The cause of the disease is a mutation in the RECQL4 gene, leading to disruption of DNA replication. The disease is inherited in an autosomal dominant manner with high penetrance.

Clinically manifested by the appearance of multiple dense formations in the skin, occurring mainly on the trunk and limbs. The formations are painless and do not tend to increase. Possible damage to internal organs.

Diagnosis is based on the clinical picture and family history. Histologically - proliferation of fibroblasts. Treatment is symptomatic - removal of formations for cosmetic reasons. The prognosis is generally favorable.