Recurrent <i>PIK3CA H1047R</i>-Mutated Congenital Infiltrative Facial Lipomatosis: A Case Report and Review of Literature
Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital, nonhereditary facial overgrowth due to post-zygomatic activating mutations in <i>PIK3CA</i> gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of th...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-02-01
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| Series: | Current Issues in Molecular Biology |
| Subjects: | |
| Online Access: | https://www.mdpi.com/1467-3045/45/2/110 |
| Summary: | Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital, nonhereditary facial overgrowth due to post-zygomatic activating mutations in <i>PIK3CA</i> gene. It is unilateral and involves hypertrophy of both the soft and hard tissue structures on the affected side of the face. This commonly results in early eruption of the teeth, hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Less than 80 cases of CILF have been reported in the literature so far. Treatment modalities include liposuction and surgical excision. However, since the hallmark of CILF is mutation in the <i>PIK3CA</i> gene, PI3K inhibitors may play a therapeutic role in CILF. We report a case of an 8-year-old boy with recurrent CILF of the scalp and nose, with <i>PIK3CA H1047R</i> mutation. We discuss the differential diagnoses, clinical outcomes, and management of this rare entity. |
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| ISSN: | 1467-3037 1467-3045 |