Research & Literature

Two cases of macrodactyly of the foot: relevance in pediatric orthopedics.

Zhang X, Liu Y, Xiao B, Li Y

Journal of pediatric orthopedics. Part B 2016; (25(2)):142-7 doi:10.1097/BPB.0000000000000242.

Ray Resection for Progressive Macrodactyly of the Hand: Surgical Technique and Illustrative Cases.

Waters PM, Gillespie BT

The Journal of hand surgery 2016; (41(8)):e251-6.

Long-term results of single-stage reduction surgery for the treatment of macrodactyly.

Lee HJ, Kim PT, Lee SJ, et al.

The Journal of hand surgery, European volume 2017; (42(1)):45-50 doi:10.1177/1753193416658777.

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.

Kuentz P, St-Onge J, Duffourd Y, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(9)):989-997 doi:10.1038/gim.2016.220.

Bilateral Macrodactyly of the Halluces in an Adolescent Girl Corrected with Shortening Osteotomies of the First Metatarsal and the Phalangeal Bones: A Case Report.

Kalb JP, Suarez DA, Herrera AM

JBJS case connector 2018; (8(3)):e58 doi:10.2106/JBJS.CC.17.00314.

Recurrence of carpal tunnel syndrome in isolated non-syndromic macrodactyly: DTI examination of a giant median nerve.

Vetrano IG, Sconfienza LM, Albano D, et al.

Skeletal radiology 2019; (48(6)):989-993 doi:10.1007/s00256-018-3098-y.

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.

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Leoni C, Onesimo R, Resta N, et al.

Clinical genetics 2019; (96(1)):102-103 doi:10.1111/cge.13550.

The Novel Phosphatidylinositol-3-Kinase (PI3K) Inhibitor Alpelisib Effectively Inhibits Growth of PTEN-Haploinsufficient Lipoma Cells.

Kirstein AS, Augustin A, Penke M, et al.

Cancers 2019; (11(10)) doi:10.3390/cancers11101586.

Lipofibromatous hamartoma of the median nerve with macrodactyly of middle finger.

Mohammed Saeed MA, Dawood AA, Mahmood HM

Journal of clinical orthopaedics and trauma 2019; (10(6)):1077-1081 doi:10.1016/j.jcot.2019.05.023.

Is Immediate Lymphatic Reconstruction Cost-effective?

Johnson AR, Asban A, Granoff MD, et al.

Annals of surgery 2021; (274(6)):e581-e588 doi:10.1097/SLA.0000000000003746.

Ulnar Nerve Entrapment at Elbow in an Adult Patient with Macrodactyly.

Tolerton SK, Sinisi M, O'Donnell P, Horwitz MD

The journal of hand surgery Asian-Pacific volume 2020; (25(2)):236-239 doi:10.1142/S2424835520720078.

Time course and management of key adverse events during the randomized phase III SOLAR-1 study of PI3K inhibitor alpelisib plus fulvestrant in patients with HR-positive advanced breast cancer.

Rugo HS, André F, Yamashita T, et al.

Annals of oncology : official journal of the European Society for Medical Oncology 2020; (31(8)):1001-1010 doi:10.1016/j.annonc.2020.05.001.

Neutralization of HSF1 in cells from PIK3CA-related overgrowth spectrum patients blocks abnormal proliferation.

Da Costa R, De Almeida S, Chevarin M, et al.

Biochemical and biophysical research communications 2020; (530(3)):520-526 doi:10.1016/j.bbrc.2020.04.146.

Lipofibromatous hamartoma of the median nerve and its terminal branches: recurrent branch and ulnar proper palmar digital nerve of the thumb. A case report.

Pichard R, Amsallem L, Masmejean E

Hand surgery & rehabilitation 2021; (40(1)):101-103 doi:10.1016/j.hansur.2020.08.006.

Lipofibromatous Hamartoma in a Hispanic Patient with macrodactyly: a rare peripheral nerve tumor causing recurrent carpal tunnel syndrome.

Pinci MV, Olivella G, Rodríguez M, et al.

Journal of surgical case reports 2020; (2020(10)):rjaa418 doi:10.1093/jscr/rjaa418.

Macrodactyly of the foot resulting from plantar nerve impairment.

Chen W, Tian X, Chen L, Huang W

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2021; (74(8)):1840-1847 doi:10.1016/j.bjps.2020.11.032.

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 characteristics of 93 cases of isolated macrodactyly of the foot in children.

Chen W, Tian X, Chen L, Huang W

Journal of orthopaedic surgery and research 2021; (16(1)):121 doi:10.1186/s13018-020-02196-2.

Pedicled Osteo-Onchyocutaneous Island Flap for Finger Macrodactyly: A Review of Literature.

Tan RES, Kyi YW, Chong AK, Sebastin SJ

The Journal of hand surgery 2022; (47(6)):588.e1-588.e8 doi:10.1016/j.jhsa.2021.04.021.

A patient with macrodystrophia lipomatosa bilaterally affecting the entire upper extremity: reporting of a rare case and literature review.

Baba K, Kashiwagi S, Nemoto M, et al.

Case reports in plastic surgery & hand surgery 2021; (8(1)):1-7 doi:10.1080/23320885.2021.1872380.

SGLT2 inhibitors as potentially helpful drugs in PI3K inhibitor-induced diabetes: a case report.

Sahakian N, Cattieuw L, Ramillon-Cury C, et al.

Clinical diabetes and endocrinology 2021; (7(1)):17 doi:10.1186/s40842-021-00125-8.

PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib.

Pagliazzi A, Oranges T, Traficante G, et al.

Frontiers in pediatrics 2021; (9()):732836 doi:10.3389/fped.2021.732836.

Clinical Review on the Management of Hormone Receptor-Positive Metastatic Breast Cancer.

McAndrew NP, Finn RS

JCO oncology practice 2022; (18(5)):319-327 doi:10.1200/OP.21.00384.

Strategy and clinical outcomes of child foot surgery for macrodactyly.

Rougereau G, Fitoussi F, Marty-Diloy T, et al.

Orthopaedics & traumatology, surgery & research : OTSR 2023; (109(3)):103109 doi:10.1016/j.otsr.2021.103109.

An Analysis of the Pathogenic Genes and Mutation Sites of Macrodactyly.

Li JF, Tian GL, Pan H, et al.

Pharmacogenomics and personalized medicine 2022; (15()):55-64 doi:10.2147/PGPM.S346373.

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.

Ray Resection as a Personalized Surgical Technique for Progressive Hand Macrodactyly in a 60-Year-Old Patient: A Case Report and Literature Review.

Hadjimichael AC, Kaspiris A, Spyridonos S

Cureus 2022; (14(3)):e23357 doi:10.7759/cureus.23357.

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.

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.

Congenital difference of the hand and foot: Pediatric macrodactyly.

Shen XF, Gasteratos K, Spyropoulou GA, et al.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS 2022; (75(11)):4054-4062 doi:10.1016/j.bjps.2022.06.059.

Fibrolipomatous hamartoma with macrodactyly and carpal tunnel syndrome.

Saida T, Sasaki K, Yoshida M, et al.

Radiology case reports 2023; (18(1)):335-338 doi:10.1016/j.radcr.2022.10.085.

Macrodystrophia lipomatosa of finger-A rare case report.

Pratap R, Raj G

Radiology case reports 2023; (18(4)):1613-1616 doi:10.1016/j.radcr.2023.01.083.

The Effect of Epiphysiodesis on the Longitudinal Bone Growth of Hands or Feet in Children With Macrodactyly Based on Long-term Quantitative Analysis.

Woo SJ, Jung JH, Choi JH, et al.

Journal of pediatric orthopedics 2023; (43(5)):e363-e369 doi:10.1097/BPO.0000000000002387.

Clinical and auxological characteristics and quality of life of 50 children and adolescents with segmental overgrowth syndromes at a single center.

Wolf MV, Moresco AA, Fano V, Caino S

Archivos argentinos de pediatria 2023; (121(6)):e202303017 doi:10.5546/aap.2023-03017.eng.

FDA Approval Summary: Alpelisib for PIK3CA-Related Overgrowth Spectrum.

Singh S, Bradford D, Li X, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2024; (30(1)):23-28 doi:10.1158/1078-0432.CCR-23-1270.

Alpelisib for treatment of patients with PIK3CA-related overgrowth spectrum (PROS).

Canaud G, Lopez Gutierrez JC, Irvine AD, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(12)):100969 doi:10.1016/j.gim.2023.100969.

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.

Impact of the PI3K-alpha inhibitor alpelisib on everolimus resistance and somatostatin receptor expression in an orthotopic pancreatic NEC xenograft mouse model.

Mohan AM, Prasad S, Schmitz-Peiffer F, et al.

Endocrine-related cancer 2024; (31(1)).

Four-month-old with severe PIK3CA-related overgrowth spectrum disorder successfully treated with alpelisb.

Cossio ML, Rodríguez J, Flores JC, et al.

Pediatric dermatology 2024; (41(4)):714-717 doi:10.1111/pde.15582.

A real-world disproportionality analysis of FDA adverse event reporting system (FAERS) events for alpelisib.

Lin Y, Zheng X, Chen Y, et al.

Heliyon 2024; (10(6)):e27529 doi:10.1016/j.heliyon.2024.e27529.

Fibrolipomatous hamartroma with macrodactyly in a 4 years old female patient: A case report.

Soedjana H, Riestiano BE, Hasibuan LY, Kusumadiningrat VM

International journal of surgery case reports 2024; (118()):109680 doi:10.1016/j.ijscr.2024.109680.

Macrodactyly.

Giżewska-Kacprzak K, Śliwiński M, Nicieja K, et al.

Children (Basel, Switzerland) 2024; (11(7)) doi:10.3390/children11070753.

Surgical management of adult hand macrodactyly in a 49-year-old patient: A case report.

Pang CJ, Huo XY, Liu Y, et al.

World journal of clinical cases 2024; (12(22)):5236-5244 doi:10.12998/wjcc.v12.i22.5236.

SGLT2 inhibition improves PI3Kα inhibitor-induced hyperglycemia: findings from preclinical animal models and from patients in the BYLieve and SOLAR-1 trials.

Borrego MR, Lu YS, Reyes-Cosmelli F, et al.

Breast cancer research and treatment 2024; (208(1)):111-121 doi:10.1007/s10549-024-07405-8.

Sequential Surgical Correction of Macrodactyly: A Case Report and Literature Review.

Russo AP, Szilveszter M, Șuta C, et al.

Cureus 2024; (16(9)):e68913 doi:10.7759/cureus.68913.

Fixed dosing of alpelisib for children with vascular anomalies: Can we do better?

Remy A, Etingin A, Gavra P, et al.

British journal of clinical pharmacology 2025; (91(3)):914-920 doi:10.1111/bcp.16388.

Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth.

Gazzin A, Reynolds G, Massuras S, et al.

Journal of medical genetics 2025; (62(4)):276-280 doi:10.1136/jmg-2024-110364.

Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.

Kyriakidis I, Pelagiadis I, Katzilakis N, Stiakaki E

Pediatric reports 2025; (17(2)) doi:10.3390/pediatric17020032.

Alpelisib in pediatric PIK3CA- and TIE-2-mutant vascular anomalies: a case series on safety, efficacy, and drug exposure.

Etingin A, Remy A, Sonea T, et al.

Pediatric hematology and oncology 2025; (42(4)):228-241 doi:10.1080/08880018.2025.2498660.

A Case of Macrodystrophia Lipomatosa of the Lower Extremity: An Effective Measuring of the Dynamic Plantar Pressure for Severe Congenital Deformity.

Ikushima K, Abe Y, Yamasaki H, et al.

Journal of plastic and reconstructive surgery 2022; (1(2)):75-81 doi:10.53045/jprs.2021-0033.

[Expert consensus on the clinical diagnosis and treatment of Congenital macrodactyly (2025 Edition)].

Hand Plastic Surgery Committee Aesthetic And Plastic Surgeon Branch Of Chinese Medical Doctor Association , Clinical Genetics Group Medical Geneticist Branch Of Chinese Medical Doctor Association , Pediatric Plastic Surgery Group Plastic Surgery Branch Of Chinese Medical Association , et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2025; (42(7)):810-819 doi:10.3760/cma.j.cn511374-20250518-00304.

Debulking and Osteotomy Procedures to Correct Severe Macrodactyly Deformity of the Hand in Young Patients.

Yu A, Huang L, Dai X, et al.

Plastic and reconstructive surgery 2026; (157(4)):541e-550e doi:10.1097/PRS.0000000000012470.

Activating PIK3CA mutation promotes overgrowth of adipose tissue via inhibiting lipophagy in macrodactyly.

Yin Y, Zhang X, Lin S, et al.

Cell death & disease 2025; (16(1)):686 doi:10.1038/s41419-025-08024-x.

Medical Therapies for Pediatric Lymphatic Malformations: A Systematic Review.

Hollman D, Cheema H, Yu AC, et al.

Journal of cutaneous medicine and surgery 2026; (30(3)):259-264 doi:10.1177/12034754251386785.

[Effectiveness analysis of tibial nerve transection with epineurial suture and division of common plantar digital nerve branches in treatment of congenital macrodactyly in children].

Li D, Tian G, Li J, et al.

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery 2025; (39(12)):1562-1567 doi:10.7507/1002-1892.202510004.