{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T02:50:47Z","timestamp":1774407047571,"version":"3.50.1"},"reference-count":27,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T00:00:00Z","timestamp":1676592000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Congenital infiltrating lipomatosis of the face (CILF) is a rare, congenital, nonhereditary facial overgrowth due to post-zygomatic activating mutations in PIK3CA 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 PIK3CA 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 PIK3CA H1047R mutation. We discuss the differential diagnoses, clinical outcomes, and management of this rare entity.<\/jats:p>","DOI":"10.3390\/cimb45020110","type":"journal-article","created":{"date-parts":[[2023,2,17]],"date-time":"2023-02-17T02:57:22Z","timestamp":1676602642000},"page":"1712-1719","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Recurrent PIK3CA H1047R-Mutated Congenital Infiltrative Facial Lipomatosis: A Case Report and Review of Literature"],"prefix":"10.3390","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2728-9081","authenticated-orcid":false,"given":"Kei Shing","family":"Oh","sequence":"first","affiliation":[{"name":"The Arkadi M. Rywlin M.D., Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3799-2595","authenticated-orcid":false,"given":"Hisham F.","family":"Bahmad","sequence":"additional","affiliation":[{"name":"The Arkadi M. Rywlin M.D., Department of Pathology and Laboratory Medicine, Mount Sinai Medical Center, Miami Beach, FL 33140, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kalin Veselinov","family":"Stoyanov","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Herbert Wertheim College of Medicine, Florida International University, Miami, FL 33199, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ibrahim H.","family":"Amjad","sequence":"additional","affiliation":[{"name":"Amjad Plastics, Miami, FL 33144, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Brathwaite","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Nicklaus Children\u2019s Hospital, Miami Children\u2019s Health System, Miami, FL 33155, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"103118","DOI":"10.1016\/j.amsu.2021.103118","article-title":"Facial infiltrating lipomatosis, a rare cause of facial asymmetry to be known: Case report and literature review","volume":"73","author":"Harouna","year":"2022","journal-title":"Ann. 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