Page 97 - FINAL COMPENDIUM 2020-2021 27.2.2022

COSTELLO SYNDROME WITH A GROWTH UNDERNEATH THE TONGUE: A CASE REPORT

Sankaran G, Areffin NM, Sockalingam G

Introduction: Costello syndrome is a rare syndrome, inherited as an autosomal dominant
genetic condition and is caused by mutations in the HRAS gene. Mutations in this gene
result in production of an abnormal HRAS protein that leads to continuous cell growth
and division. Traumatic neuroma is a benign non-neoplastic proliferation of nerve endings
in response to trauma or surgery. Case report: A 9-year old female presented with a
painless, slow growing swelling at the right floor of the mouth since 4-5 years ago. Her
clinical manifestations include growth and developmental delay, a distinct facial
appearance with sparse and frizzy hair, large mouth with thick lips and loose skin on the
hands and feet. Intraoral examination showed a firm, sessile soft tissue swelling arising
over the sublingual fold at the right floor of the mouth with overlying mucosa normal in
colour and appearance. Magnetic Resonance Imaging of the base of skull until neck was
performed and suggestive of bilateral sublingual glands hyperplasia with cerebellar
atrophy. Surgical excision of the lesion and incisional biopsy was performed and the
histopathological examination revealed traumatic neuroma with irregular admixture of
nerve fibres, fibrous tissue and some areas of inflammatory cells. Discussion: The HRAS
gene mutations causes cells to grow and divide all the time. This can lead to both
cancerous and noncancerous tumour growth. The MRI revealed bilateral sublingual
glands hyperplasia. However, the constant rubbing of the lesion against the teeth may
have caused irritation to the lesion. Conclusion: Therefore, a more holistic approach is
advisable in managing Costello patients.

Virtual presentation at the MAPD 2021 Virtual Scientific Conference & AGM on 8 March 2021

Dr Geetha Sankaran
Dr Nurulnazra Mohd Areffin
Dr Ganasalingam A/L Sockalingam
Department of Paediatric Dentistry
Hospital Tunku Azizah
Kuala Lumpur

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