Čes. stomatol. Prakt. zub. lék. (Czech Dental Journal) 2026; 126(3): 61-70 | DOI: 10.51479/cspzl.2026.004

OROFACIAL FEATURES OF MULTIPLE HAMARTOMA SYNDROME IN A CHILD

Merglová V.^{1, 2}, Baborská L.^{1, 2}

¹ Stomatologická klinika, Lékařská fakulta v Plzni, Univerzita Karlova

² Stomatologická klinika, Fakultní nemocnice Plzeň

Introduction and aim: Multiple hamartoma syndrome (Cowden syndrome) is characterized by a high risk of developing benign and malignant tumors of the thyroid gland, breast, gastrointestinal tract, and endometrium. The cause of this disease is a mutation in the tumor suppressor (antioncogenic) gene PTEN. The syndrome manifests itself with typical skin and mucosal lesions, neurological problems, and manifestations in the digestive tract. The aim of the case report is to draw attention to the symptoms in the oral cavity occurring in this syndrome.
Case description: The case report presents the medical history of a girl diagnosed with Cowden syndrome, orofacial findings, treatment plan, long-term dental follow-up, and treatment. At the age of 20 months, the girl was diagnosed with medulloblastoma of the left cerebellar hemisphere. Treatment consisted of surgical removal of the tumor and chemotherapy. At the age of 6 years, molecular genetic examination was performed, which demonstrated multiple hamartoma syndrome. During the first clinical dental examination at the age of 6, the girl was found to have macrocephaly and characteristic intraoral symptoms – gingival hypertrophy and multiple papules on the tongue. During the 9-year follow-up, the changes in the oral mucosa did not worsen.

Conclusion: The mucocutaneous lesions are of fundamental importance for the diagnosis of Cowden syndrome. They occur in almost all affected individuals and usually appear before the age of 30. Knowledge of mucosal manifestations in Cowden syndrome is important for dentists, as they can contribute to the early diagnosis of this syndrome and thus improve the prognosis of affected patients.

Keywords: Cowden syndrome, PTEN gene mutation, oral mucosal papilomatosis, skin hamartomas, macrocephaly, gastrointestinal polyposis

Received: April 8, 2026; Revised: June 2, 2026; Accepted: June 7, 2026; Prepublished online: August 26, 2026; Published: September 7, 2026  Show citation