Multiple Hamartoma Syndrome, also known as Cowden Syndrome, is a rare genetic disorder characterized by the development of multiple noncancerous tumor-like growths called hamartomas throughout various tissues and organs in the body.
Hamartomas are benign growths that result from an abnormal mixture of cells and tissues, typically seen as focal overgrowths or malformations. In Multiple Hamartoma Syndrome, these growths can form in several organs including the thyroid, breasts, gastrointestinal tract, mucous membranes, skin, and brain.
Furthermore, individuals afflicted with this syndrome have an increased risk of developing certain types of cancers, notably breast, thyroid, and uterine cancer. This elevated risk of cancer necessitates regular screening and monitoring to detect any abnormalities at an early stage. Other associated features of Multiple Hamartoma Syndrome include macrocephaly (an enlarged head), facial trichilemmomas (benign tumors on hair follicle openings), skin abnormalities such as acral keratoses, and developmental delay or intellectual disabilities.
Multiple Hamartoma Syndrome is caused by certain mutations in the PTEN gene, which is responsible for regulating cell growth and division. The mode of inheritance is autosomal dominant, meaning that an affected individual has a 50% chance of passing the condition to each of their children.
Treatment for Multiple Hamartoma Syndrome focuses on managing and treating the associated symptoms and complications. This may involve surgical removal of hamartomas, regular surveillance for cancer, hormone replacement therapy, and genetic counseling for affected individuals and their families.
