Research & Literature

Missense mutation in the PTEN promoter of a patient with hemifacial hyperplasia.

Yamazaki K, Eng C, Kuznetsov SA, et al.

BoneKEy reports 2015; (4()):654 doi:10.1038/bonekey.2015.21.

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Di Donato N, Rump A, Mirzaa GM, et al.

Human mutation 2016; (37(3)):242-5 doi:10.1002/humu.22933.

Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum.

Vahidnezhad H, Youssefian L, Baghdadi T, et al.

The British journal of dermatology 2016; (175(4)):810-4 doi:10.1111/bjd.14618.

Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.

Gripp KW, Baker L, Kandula V, et al.

American journal of medical genetics. Part A 2016; (170(10)):2559-69 doi:10.1002/ajmg.a.37758.

CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).

Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, et al.

Clinical genetics 2017; (91(1)):14-21 doi:10.1111/cge.12832.

Congenital Hemifacial Hyperplasia: Clinical Presentation and Literature Review.

Shanmugasundaram K, Vedam VK, Ganapathy S, et al.

Case reports in dentistry 2016; (2016()):5260645 doi:10.1155/2016/5260645.

Defining the location of the dental midline is critical for oral esthetics in camouflage orthodontic treatment of facial asymmetry.

Kai R, Umeki D, Sekiya T, Nakamura Y

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics 2016; (150(6)):1028-1038 doi:10.1016/j.ajodo.2015.10.035.

Infiltrating lipomatosis of the face: case series and literature review.

Serpa MS, Scully C, Molina Vivas AP, et al.

Oral surgery, oral medicine, oral pathology and oral radiology 2017; (123(3)):e99-e105 doi:10.1016/j.oooo.2016.10.009.

Hemifacial hypertrophy: Exploring new avenues of treatment modalities.

Nandimath SA, Rajkumar GC, Nayak T, et al.

National journal of maxillofacial surgery 2016; (7(1)):100-104 doi:10.4103/0975-5950.196123.

Orthognathic Surgery with Simultaneous Autologous Fat Transfer for Correction of Facial Asymmetry.

Wang YC, Wallace CG, Pai BC, et al.

Plastic and reconstructive surgery 2017; (139(3)):693-700 doi:10.1097/PRS.0000000000003113.

Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.

Akgumus G, Chang F, Li MM

The Journal of molecular diagnostics : JMD 2017; (19(4)):487-497 doi:10.1016/j.jmoldx.2017.04.001.

Hemifacial Hyperplasia.

Salti L, Rasse M, Al-Ouf K

Contemporary clinical dentistry 2017; (8(2)):327-331 doi:10.4103/ccd.ccd_113_17.

PI3K/mTOR inhibition promotes the regression of experimental vascular malformations driven by PIK3CA-activating mutations.

di Blasio L, Puliafito A, Gagliardi PA, et al.

Cell death & disease 2018; (9(2)):45 doi:10.1038/s41419-017-0064-x.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Venot Q, Blanc T, Rabia SH, et al.

Nature 2018; (558(7711)):540-546 doi:10.1038/s41586-018-0217-9.

Postnatal Exocrine Pancreas Growth by Cellular Hypertrophy Correlates with a Shorter Lifespan in Mammals.

Anzi S, Stolovich-Rain M, Klochendler A, et al.

Developmental cell 2018; (45(6)):726-737.e3 doi:10.1016/j.devcel.2018.05.024.

Orthognathic Treatment of Skeletal Class III Malocclusion with Severe Facial Asymmetry.

Atik E, Konaş E, Kocadereli İ

Turkish journal of orthodontics 2016; (29(1)):22-26 doi:10.5152/TurkJOrthod.2016.15-00025.

Early Mandibular Distraction in Craniofacial Microsomia and Need for Orthognathic Correction at Skeletal Maturity: A Comparative Long-Term Follow-Up Study.

Zhang RS, Lin LO, Hoppe IC, et al.

Plastic and reconstructive surgery 2018; (142(5)):1285-1293 doi:10.1097/PRS.0000000000004842.

Molecular diagnosis of somatic overgrowth conditions: A single-center experience.

Lalonde E, Ebrahimzadeh J, Rafferty K, et al.

Molecular genetics & genomic medicine 2019; (7(3)):e536 doi:10.1002/mgg3.536.

Hemimandibular hyperplasia treated with orthognathic surgery and mandibular body osteotomy.

Kim HL, Choi YJ, Kim H

American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics 2019; (155(5)):714-724 doi:10.1016/j.ajodo.2017.11.044.

Congenital infiltrating lipomatosis of the face: A subtype of hemifacial hyperplasia.

Sun R, Sun L, Li G, et al.

International journal of pediatric otorhinolaryngology 2019; (125()):107-112 doi:10.1016/j.ijporl.2019.06.032.

PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth.

Blackburn PR, Milosevic D, Marek T, et al.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2020; (33(3)):420-430 doi:10.1038/s41379-019-0354-1.

Parry-Romberg Syndrome With Hemimasticatory Spasm: A Rare Combination.

Chen GC, Chen MJ, Wei WB, Hao YB

The Journal of craniofacial surgery 2020; (31(2)):e205-e208 doi:10.1097/SCS.0000000000006228.

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

Karolak JA, Liu Q, Xie NG, et al.

The Journal of molecular diagnostics : JMD 2020; (22(4)):447-456 doi:10.1016/j.jmoldx.2019.12.007.

Elevated levels of Drosophila Wdr62 promote glial cell growth and proliferation through AURKA signalling to AKT and MYC.

Shohayeb B, Mitchell N, Millard SS, et al.

Biochimica et biophysica acta. Molecular cell research 2020; (1867(7)):118713 doi:10.1016/j.bbamcr.2020.118713.

Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

Nolte JW, Alders M, Karssemakers LHE, et al.

International journal of oral and maxillofacial surgery 2020; (49(11)):1464-1469 doi:10.1016/j.ijom.2020.02.002.

Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation.

Le Cras TD, Goines J, Lakes N, et al.

Angiogenesis 2020; (23(3)):425-442 doi:10.1007/s10456-020-09722-0.

Hemifacial hyperplasia: a case series and review of the literature.

Dattani A, Heggie A

International journal of oral and maxillofacial surgery 2021; (50(3)):341-348 doi:10.1016/j.ijom.2020.05.008.

A Systematic Review of the Prevalence and Diagnostic Workup of PIK3CA Mutations in HR+/HER2- Metastatic Breast Cancer.

Anderson EJ, Mollon LE, Dean JL, et al.

International journal of breast cancer 2020; (2020()):3759179 doi:10.1155/2020/3759179.

PIK3CA vascular overgrowth syndromes: an update.

Hughes M, Hao M, Luu M

Current opinion in pediatrics 2020; (32(4)):539-546 doi:10.1097/MOP.0000000000000923.

Congenital infiltrating lipomatosis of the face with lingual mucosal neuromas associated with a PIK3CA mutation.

Briand C, Galmiche-Rolland L, Vabres P, et al.

Pediatric dermatology 2020; (37(6)):1128-1130 doi:10.1111/pde.14302.

Congenital infiltrating lipomatosis of the face with temporomandibular joint ankylosis.

Gupta R, Mukul SK, Kumar P, Kumar A

National journal of maxillofacial surgery 2020; (11(1)):117-120 doi:10.4103/njms.NJMS_59_17.

Three-Dimensional Planning of the Mandibular Margin in Hemifacial Microsomia Using a Printed Patient-Specific Implant.

Igelbrink S, Zanettini LMS, Bohner L, et al.

The Journal of craniofacial surgery 2020; (31(8)):2297-2301 doi:10.1097/SCS.0000000000007039.

Unique Case of Congenital Lipomatous Overgrowth With Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Anomalies Syndrome in a Pediatric Patient.

Quinn KE, Infante J, Thorson W, Thorson CM

Cureus 2020; (12(9)):e10737 doi:10.7759/cureus.10737.

Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth.

Griff JR, Duffy KA, Kalish JM

Frontiers in pediatrics 2020; (8()):613260 doi:10.3389/fped.2020.613260.

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome.

Forde K, Resta N, Ranieri C, et al.

Orphanet journal of rare diseases 2021; (16(1)):109 doi:10.1186/s13023-021-01745-0.

Modern Mandibular Distraction Applications in Hemifacial Microsomia.

Shakir S, Bartlett SP

Clinics in plastic surgery 2021; (48(3)):375-389 doi:10.1016/j.cps.2021.02.001.

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway.

Yan W, Zhang B, Wang H, et al.

Hereditas 2021; (158(1)):18 doi:10.1186/s41065-021-00184-y.

Lymphangioma of the fetal neck within the PIK3CA-related-overgrowth spectrum (PROS): A case report.

Scharf JL, Gembicki M, Dracopoulos C, et al.

Clinical case reports 2021; (9(7)):e04527 doi:10.1002/ccr3.4527.

Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.

Carli D, Kalantari S, Manicone R, et al.

Clinical genetics 2021; (100(5)):624-627 doi:10.1111/cge.14047.

Alpelisib administration reduced lymphatic malformations in a mouse model and in patients.

Delestre F, Venot Q, Bayard C, et al.

Science translational medicine 2021; (13(614)):eabg0809 doi:10.1126/scitranslmed.abg0809.

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.

Morin G, Degrugillier-Chopinet C, Vincent M, et al.

The Journal of experimental medicine 2022; (219(3)) doi:10.1084/jem.20212148.

Alpelisib to treat CLOVES syndrome, a member of the PIK3CA-related overgrowth syndrome spectrum.

Garreta Fontelles G, Pardo Pastor J, Grande Moreillo C

British journal of clinical pharmacology 2022; (88(8)):3891-3895 doi:10.1111/bcp.15270.

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).

Gökpınar İli E, Taşdelen E, Durmaz CD, et al.

American journal of medical genetics. Part A 2022; (188(6)):1792-1800 doi:10.1002/ajmg.a.62709.

PIK3CA-related overgrowth with an uncommon phenotype: case report.

Rotunno R, Diociaiuti A, Pisaneschi E, et al.

Italian journal of pediatrics 2022; (48(1)):71 doi:10.1186/s13052-022-01268-9.

Congenital Hemifacial Hypertrophy: A Case With Unilateral Tonsillar Hypertrophy and Parapharyngeal Space Lipoma.

Zhu P, Li XY

Ear, nose, & throat journal 2025; (104(1_suppl)):85S-88S doi:10.1177/01455613221120730.

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.

Wenger TL, Ganti S, Bull C, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(11)):2318-2328 doi:10.1016/j.gim.2022.07.026.

PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.

Ladraa S, Zerbib L, Bayard C, et al.

Science advances 2022; (8(49)):eade7823 doi:10.1126/sciadv.ade7823.

Hemifacial hypertrophy - Report of 2 cases.

Balaji SM, Balaji P

Indian journal of dental research : official publication of Indian Society for Dental Research 2022; (33(3)):344-347 doi:10.4103/ijdr.ijdr_688_22.

Papillary Intralymphatic Angioendothelioma in a Child With PIK3CA-Related Overgrowth Spectrum: Implication of PI3K Pathway in the Vascular Tumorigenesis.

Debelenko L, Mansukhani MM, Remotti F

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2023; (26(2)):166-171 doi:10.1177/10935266231152370.

Two tests of peripheral blood by standard methods were negative for Von Hippel-Lindau mutations: A case report.

Deng B, Liu C

Asian journal of surgery 2023; (46(9)):4101-4102 doi:10.1016/j.asjsur.2023.04.079.

PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly.

Krishnamurthy K, Edema U, Ustun B, et al.

Journal of surgical case reports 2023; (2023(10)):rjad549 doi:10.1093/jscr/rjad549.

Temporomandibular Joint Prosthesis in a Patient with Congenital Infiltrating Lipomatosis of the Face with Bony Ankylosis of the Temporomandibular Joint: A Case Report.

Bulthuis LCM, Ho JPTF, Zuurbier PCM, et al.

Journal of clinical medicine 2023; (12(24)) doi:10.3390/jcm12247723.

Managing hyperglycemia and rash associated with alpelisib: expert consensus recommendations using the Delphi technique.

Gallagher EJ, Moore H, Lacouture ME, et al.

NPJ breast cancer 2024; (10(1)):12 doi:10.1038/s41523-024-00613-x.

Clinical, imaging, and pathological characteristics of congenital infiltrating lipomatosis of the face.

Xu GS, Du Z, Yang GX, et al.

International journal of oral and maxillofacial surgery 2024; (53(8)):661-671 doi:10.1016/j.ijom.2024.02.001.

Congenital Infiltrating Lipomatosis of Face-Induced Temporomandibular Joint Ankylosis.

Rattan V, Singh A, Malik P, Jolly SS

The Journal of craniofacial surgery 2024; (35(5)):e476-e479 doi:10.1097/SCS.0000000000010355.

Coablator-Assisted Excision of an Obstructing Mass in Congenital Hemifacial Hypertrophy.

Maheshwari J, Vishwakarma R

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2024; (76(3)):2820-2823 doi:10.1007/s12070-024-04525-x.

Threshold of somatic mosaicism leading to brain dysfunction with focal epilepsy.

Kim J, Park SM, Koh HY, et al.

Brain : a journal of neurology 2024; (147(9)):2983-2990 doi:10.1093/brain/awae190.

Using three-dimensional geometric morphometry for facial analysis in patients with the oculo-auriculo-vertebral spectrum.

Poláčková P, Borovec J, Vašáková J, et al.

Orthodontics & craniofacial research 2024; (27(6)):917-927 doi:10.1111/ocr.12834.

Wilms tumor and associated predisposing syndromes and conditions.

Meni D

JAAPA : official journal of the American Academy of Physician Assistants 2025; (38(1)):27-33 doi:10.1097/01.JAA.0000000000000165.

Multidisciplinary approach to occlusal rehabilitation in a patient with true hemifacial hyperplasia and temporomandibular joint ankylosis: a case report.

Choi EA, Bae JH, Lee S, et al.

BMC oral health 2024; (24(1)):1525 doi:10.1186/s12903-024-05307-1.

Advances in the Treatment of Congenital Infiltrating Lipomatosis of the Face: The Role of PIK3CA Mutations and Microvascular Reconstruction.

Moreno SD, Liu RH, Robbins Q, Burkes J

The Journal of craniofacial surgery 2025; (36(1)):229-233 doi:10.1097/SCS.0000000000010751.

Evolving medical treatment for vascular malformation.

Pang C, Lee R, Nisbet R, et al.

Phlebology 2026; (41(3)):190-200 doi:10.1177/02683555251361663.

Radiologic Aspects of Segmental Odontomaxillary Dysplasia: A Case Report.

Landim A, Dorta RG, Soares AB, et al.

Case reports in dentistry 2025; (2025()):5963437 doi:10.1155/crid/5963437.