Congenital infiltrating lipomatosis of the face

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Synonyms: CIL-F | Facial infused lipomatosis | Fibroadipose infiltrating lipomatosis

A rare PIK3CA-related overgrowth syndrome characterized by congenital non-hereditary facial overgrowth due to post-zygotic activating mutations in the PIK3CA gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face including hypertrophy of the facial bones macroglossia and proliferation of the parotid gland. Early eruption of the teeth is common.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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