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Congenital infiltrating lipomatosis of the face

MedGen UID:
1814459
•Concept ID:
C5680341
•
Disease or Syndrome
Synonyms: CIL-F; Congenital infiltrating lipomatosis of face; congenital infiltrating lipomatosis of the face; Facial infused lipomatosis; facial infused lipomatosis; Fibroadipose infiltrating lipomatosis; fibroadipose infiltrating lipomatosis
SNOMED CT: Congenital infiltrating lipomatosis of face (1251402007)
 
Monarch Initiative: MONDO:0035592
Orphanet: ORPHA583097

Definition

A rare PIK3CA-related overgrowth syndrome characterized by congenital non-hereditary facial overgrowth due to post-zygomatic activating mutations in the <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, including hypertrophy of the facial bones, macroglossia, and proliferation of the parotid gland. Early eruption of the teeth is common. [from ORPHANET]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital infiltrating lipomatosis of the face

Professional guidelines

PubMed

Clinical characteristics and surgical management of facial infiltrating lipomatosis: a single center experience.
Chen H, Sun B, Xia W, Qiu Y, Gao W, Hua C, Lin X
Head Face Med 2024 Feb 20;20(1):13. doi: 10.1186/s13005-024-00412-6. PMID: 38378686Free PMC Article
Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations.
Chen H, Sun B, Gao W, Qiu Y, Hua C, Lin X
Orphanet J Rare Dis 2023 Jul 14;18(1):189. doi: 10.1186/s13023-023-02786-3. PMID: 37452404Free PMC Article
Management of Vascular Anomalies and Related Conditions Using Suction-Assisted Tissue Removal.
Couto JA, Maclellan RA, Greene AK
Plast Reconstr Surg 2015 Oct;136(4):511e-514e. doi: 10.1097/PRS.0000000000001558. PMID: 26397270

Recent clinical studies

Etiology

Congenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia.
Sun R, Sun L, Li G, Sun Z, Zhao Y, Ma X, Sun C
Int J Pediatr Otorhinolaryngol 2019 Oct;125:107-112. Epub 2019 Jun 30 doi: 10.1016/j.ijporl.2019.06.032. PMID: 31280031
Congenital Infiltrating Lipomatosis of the Face: Case Report With Presentation of a New Multistep Surgical Approach.
Kalantary S, Van de Casteele E, Nadjmi N
J Oral Maxillofac Surg 2018 Jun;76(6):1334-1343. Epub 2017 Oct 16 doi: 10.1016/j.joms.2017.10.015. PMID: 29128477
Syndromic lipomatosis of the head and neck: a review of the literature.
Tadisina KK, Mlynek KS, Hwang LK, Riazi H, Papay FA, Zins JE
Aesthetic Plast Surg 2015 Jun;39(3):440-8. Epub 2015 Apr 10 doi: 10.1007/s00266-015-0478-8. PMID: 25860506
Congenital infiltrating lipomatosis of the face with associated involvement of the TMJ structures. Case report and review of the literature.
Keramidas T, Lagogiannis G, Vlachou V, Katsikeris N
J Craniomaxillofac Surg 2012 Dec;40(8):750-6. Epub 2012 Mar 16 doi: 10.1016/j.jcms.2012.01.025. PMID: 22425497

Diagnosis

Congenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia.
Sun R, Sun L, Li G, Sun Z, Zhao Y, Ma X, Sun C
Int J Pediatr Otorhinolaryngol 2019 Oct;125:107-112. Epub 2019 Jun 30 doi: 10.1016/j.ijporl.2019.06.032. PMID: 31280031
Congenital Infiltrating Lipomatosis of the Face: Case Report and Literature Review.
Li Y, Chang G, Si L, Zhang H, Chang X, Chen Z, Huang J, Bai M, Wang Y, Long X, Zhao R, Wang X
Ann Plast Surg 2018 Jan;80(1):83-89. doi: 10.1097/SAP.0000000000001213. PMID: 28846548Free PMC Article
Syndromic lipomatosis of the head and neck: a review of the literature.
Tadisina KK, Mlynek KS, Hwang LK, Riazi H, Papay FA, Zins JE
Aesthetic Plast Surg 2015 Jun;39(3):440-8. Epub 2015 Apr 10 doi: 10.1007/s00266-015-0478-8. PMID: 25860506
Tooth abnormalities in congenital infiltrating lipomatosis of the face.
Sun L, Sun Z, Zhu J, Ma X
Oral Surg Oral Med Oral Pathol Oral Radiol 2013 Feb;115(2):e52-62. Epub 2012 Sep 28 doi: 10.1016/j.oooo.2012.07.433. PMID: 23021924
Congenital infiltrating lipomatosis.
Pires Fraga MF, Mello D, Jorge D, Perin LF, Helene A
J Plast Reconstr Aesthet Surg 2009 Dec;62(12):e561-4. Epub 2009 Jan 4 doi: 10.1016/j.bjps.2008.11.058. PMID: 19124289

Prognosis

Syndromic lipomatosis of the head and neck: a review of the literature.
Tadisina KK, Mlynek KS, Hwang LK, Riazi H, Papay FA, Zins JE
Aesthetic Plast Surg 2015 Jun;39(3):440-8. Epub 2015 Apr 10 doi: 10.1007/s00266-015-0478-8. PMID: 25860506
Congenital infiltrating lipomatosis of the face with associated involvement of the TMJ structures. Case report and review of the literature.
Keramidas T, Lagogiannis G, Vlachou V, Katsikeris N
J Craniomaxillofac Surg 2012 Dec;40(8):750-6. Epub 2012 Mar 16 doi: 10.1016/j.jcms.2012.01.025. PMID: 22425497
Congenital infiltrating lipomatosis.
Pires Fraga MF, Mello D, Jorge D, Perin LF, Helene A
J Plast Reconstr Aesthet Surg 2009 Dec;62(12):e561-4. Epub 2009 Jan 4 doi: 10.1016/j.bjps.2008.11.058. PMID: 19124289
Congenital infiltrating lipomatosis of the face with cerebral abnormalities.
Unal O, Cirak B, Bekerecioglu M, Kutluhan A, Ugraş S, Tali T
Eur Radiol 2000;10(10):1610-3. doi: 10.1007/s003300000427. PMID: 11044934

Clinical prediction guides

Mask Induction for an Intellectually Disabled Patient With Congenital Infiltrating Lipomatosis of the Face.
Yamanaka H, Tsukamoto M, Hitosugi T, Yokoyama T
Anesth Prog 2020 Jun 1;67(2):98-102. doi: 10.2344/anpr-67-01-01. PMID: 32633775Free PMC Article
Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1.
Capra V, Severino M, Rossi A, Nozza P, Doneda C, Perri K, Pavanello M, Fiorio P, Gimelli G, Tassano E, Di Battista E
Am J Med Genet A 2014 Feb;164A(2):495-9. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36283. PMID: 24311370
Tooth abnormalities in congenital infiltrating lipomatosis of the face.
Sun L, Sun Z, Zhu J, Ma X
Oral Surg Oral Med Oral Pathol Oral Radiol 2013 Feb;115(2):e52-62. Epub 2012 Sep 28 doi: 10.1016/j.oooo.2012.07.433. PMID: 23021924
Congenital infiltrating lipomatosis of the face with ipsilateral hemimegalencephaly, band heterotopia, and hypertrophy of brainstem and cerebellum.
Maruyama K, Okumura A, Negoro T, Watanabe K
Neuropediatrics 2010 Jun;41(3):147-50. Epub 2010 Sep 21 doi: 10.1055/s-0030-1263165. PMID: 20859836

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