NUMERO: #20230970

Título: BILATERAL LIPOMATOUS HAMARTOMA ON THE TONGUE: A RARE ENTITY IN A 2-YEAR-OLD PATIENT

Nome do Apresentador: Aline QUEIROZ

Categoria do Trabalho: Painel de caso clínico (PCC)

Área Temática: Patologia Oral

Resumo: A hamartoma is an overgrowth of mature tissue that is usually found in this anatomical location. Although scattered adipocytes are present on the tongue, in hamartomatous lesions the adipose tissue appears disorganized and surrounds other common structures. A 2-year-old boy presented with a bilateral pinkish nodule on the lateral surface of the tongue. Polydactyly, hypotonia, low visual acuity and delay in motor development were characteristics observed during the clinical examination. Excisional biopsies were performed on the right and left sides of the tongue. Microscopically, there were mature adipocytes arranged predominantly in lobules and surrounding the salivary gland tissue. The histopathological diagnosis was a lipomatous hamartoma for both sides. Whole exome sequencing was performed and identified two heterozygous variants in the CPLANE1 gene, associated with Joubert syndrome 17 and orofaciodigital syndrome type 6, both autosomal recessive disorders. The patient is currently under medical and dental follow-up.

Autor 1:  Aline QUEIROZ

E-mail 1:  [email protected]

Autor 2:   Paulo Sergio Souza PINA

E-mail 2:  [email protected]

Autor 3 :  Myrian Stella Paiva NOVAES

E-mail 3:  [email protected]

Autor 4:  Beatriz DUTRA

E-mail 4:  [email protected]

Autor 5:  Luciane Hiramatsu AZEVEDO

E-mail 5:  [email protected]

Autor 6:  Suzana Cantanhede Orsini Machado de SOUSA

E-mail 6:  [email protected]