A Case of Infantile Cowden Syndrome and Literature Review

Cowden syndrome (CS) is a rare inherited condition associated with a mutation in the phosphate and tensin gene (∼80%), autosomal dominant in nature, and characterized by multiple hamartomas. It has a very high malignant potential in many tissues, but especially the breast, thyroid, and endometrium. It has a typical onset in the second or third decade of life, with very nonspecific presentations. Presentation of the disease in an earlier age group is quite rare, and the initial clues could be cutaneous manifestations. However, professionals should be able to identify this syndrome so that patients can undergo screening for malignant growth and be given the chance to undergo genetic testing to help them and their families make decisions about their medical care. Here, we report a case of infantile CS with cutaneous manifestations presenting from birth.