| Autor: |
QUEIROZ, Aline, PINA, Paulo Sergio Souza, NOVAES, Myrian Stella Paiva, DUTRA, Beatriz, AZEVEDO, Luciane Hiramatsu, de SOUSA, Suzana Cantanhede Orsini Machado |
| Zdroj: |
Oral Surgery, Oral Medicine, Oral Pathology & Oral Radiology; Jun2024, Vol. 137 Issue 6, pe237-e238, 2p |
| Abstrakt: |
A hamartoma typically occurs as an overgrowth of mature tissue and is commonly found in this specific anatomical location. While the tongue does contain scattered adipocytes, hamartomatous lesions display disorganized adipose tissue that surrounds other normal structures. In the case of a 2-year-old boy, he presented with bilateral pinkish nodules on the lateral surface of the tongue. During the clinical examination, features such as polydactyly, hypotonia, low visual acuity, and developmental motor delay were noted. To confirm the diagnosis, excisional biopsies were performed on both sides of the tongue. Microscopic examination revealed mature adipocytes predominantly arranged in lobules and surrounding the salivary gland tissue. The histopathological diagnosis for both sides was lipomatous hamartoma. Further investigation through whole exome sequencing uncovered two heterozygous variants in the CPLANE1 gene, which are associated with Joubert syndrome 17 and orofaciodigital syndrome type 6, both of which are autosomal recessive disorders. The patient is currently receiving medical and dental follow-up care.. [ABSTRACT FROM AUTHOR] |
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