Research & Literature

Review of Ocular Manifestations of Nevoid Basal Cell Carcinoma Syndrome: What an Ophthalmologist Needs to Know.

Chen JJ, Sartori J, Aakalu VK, Setabutr P

Middle East African journal of ophthalmology 2015; (22(4)):421-7 doi:10.4103/0974-9233.167815.

Nevoid Basal Cell Carcinoma Syndrome: A Long-Term Study in a Family.

de Santana Santos T, Vajgel A, Martins-Filho PR, et al.

Craniomaxillofacial trauma & reconstruction 2016; (9(1)):94-104 doi:10.1055/s-0035-1558454.

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

Bresler SC, Padwa BL, Granter SR

Head and neck pathology 2016; (10(2)):119-24 doi:10.1007/s12105-016-0706-9.

A Rare Case of a Symptomatic Tumor Found in the Groin Area: An Atypical Location Unexposed to the Known Causes.

Toyonaga E, Hata H, Nakayama C, et al.

Case reports in oncology 2015; (8(3)):536-9 doi:10.1159/000442148.

Nevoid Basal Cell Carcinoma Syndrome: Report from the Zurich Nevoid Basal Cell Carcinoma Syndrome Cohort.

Rehefeldt-Erne S, Nägeli MC, Winterton N, et al.

Dermatology (Basel, Switzerland) 2016; (232(3)):285-92 doi:10.1159/000444792.

Role of Carnoy's solution in the treatment of keratocystic odontogenic tumor: A systematic review.

Díaz-Belenguer Á, Sánchez-Torres A, Gay-Escoda C

Medicina oral, patologia oral y cirugia bucal 2016; (21(6)):e689-e695 doi:10.4317/medoral.21250.

Ingenol Mebutate Treatment in a Patient with Gorlin Syndrome.

Stieger M, Hunger RE

Dermatology (Basel, Switzerland) 2016; (232 Suppl 1()):29-31 doi:10.1159/000447394.

BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER.

Farley ND, Sassalos TM, Ober MD

Retinal cases & brief reports 2017; (11 Suppl 1()):S151-S154 doi:10.1097/ICB.0000000000000388.

Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases.

Ali IK, Karjodkar FR, Sansare K, et al.

Cureus 2016; (8(8)):e727 doi:10.7759/cureus.727.

Inhibition of the hedgehog pathway in patients with basal-cell nevus syndrome: final results from the multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.

Tang JY, Ally MS, Chanana AM, et al.

The Lancet. Oncology 2016; (17(12)):1720-1731 doi:10.1016/S1470-2045(16)30566-6.

Nevoid Basal Cell Carcinoma Syndrome.

Handa F, Sharma P, Gupta S

Indian journal of dermatology, venereology and leprology 1985; (51(5)):282-284.

First evidence of genotype-phenotype correlations in Gorlin syndrome.

Evans DG, Oudit D, Smith MJ, et al.

Journal of medical genetics 2017; (54(8)):530-536 doi:10.1136/jmedgenet-2017-104669.

Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.

Foulkes WD, Kamihara J, Evans DGR, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2017; (23(12)):e62-e67 doi:10.1158/1078-0432.CCR-17-0595.

Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.

Alonso N, Cañueto J, Ciria S, et al.

The British journal of dermatology 2018; (178(1)):198-206 doi:10.1111/bjd.15835.

Gorlin-Goltz syndrome.

Şereflican B, Tuman B, Şereflican M, et al.

Turk pediatri arsivi 2017; (52(3)):173-177 doi:10.5152/TurkPediatriArs.2017.2992.

Recovery of taste organs and sensory function after severe loss from Hedgehog/Smoothened inhibition with cancer drug sonidegib.

Kumari A, Ermilov AN, Grachtchouk M, et al.

Proceedings of the National Academy of Sciences of the United States of America 2017; (114(48)):E10369-E10378 doi:10.1073/pnas.1712881114.

Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.

Guerrini-Rousseau L, Dufour C, Varlet P, et al.

Neuro-oncology 2018; (20(8)):1122-1132 doi:10.1093/neuonc/nox228.

Conservative surgical treatments for nonsyndromic odontogenic keratocysts: a systematic review and meta-analysis.

de Castro MS, Caixeta CA, de Carli ML, et al.

Clinical oral investigations 2018; (22(5)):2089-2101 doi:10.1007/s00784-017-2315-8.

The role of the Hedgehog signaling pathway in cancer: A comprehensive review.

Skoda AM, Simovic D, Karin V, et al.

Bosnian journal of basic medical sciences 2018; (18(1)):8-20 doi:10.17305/bjbms.2018.2756.

New mutations and an updated database for the patched-1 (PTCH1) gene.

Reinders MG, van Hout AF, Cosgun B, et al.

Molecular genetics & genomic medicine 2018; (6(3)):409-415 doi:10.1002/mgg3.380.

Odontogenic Keratocysts as First Manifestation of Nevoid Basal Cell Carcinoma Syndrome: Surgical Management and Immunohistochemical Analysis.

Dos Santos JL, Delgado RZR, de Oliveira GR, Rangel ALCA

The Journal of craniofacial surgery 2018; (29(6)):1588-1590 doi:10.1097/SCS.0000000000004564.

The relevance of a suppressor of fused (SUFU) mutation in the diagnosis and treatment of Gorlin syndrome.

Ogden T, Higgins S, Elbaum D, Wysong A

JAAD case reports 2018; (4(2)):196-199 doi:10.1016/j.jdcr.2017.10.011.

Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome.

Ritter AL, Granquist EJ, Iyer VR, Izumi K

Molecular syndromology 2018; (9(4)):219-223 doi:10.1159/000489056.

Severe PATCHED1 Deficiency in Cancer-Prone Gorlin Patient Cells Results in Intrinsic Radiosensitivity.

Vulin A, Sedkaoui M, Moratille S, et al.

International journal of radiation oncology, biology, physics 2018; (102(2)):417-425 doi:10.1016/j.ijrobp.2018.05.057.

Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.

Gianferante DM, Rotunno M, Dean M, et al.

Molecular genetics & genomic medicine 2018; (6(6)):1168-1180 doi:10.1002/mgg3.498.

Clinical and histomorphometric evaluation of decompression followed by enucleation in the treatment of odontogenic keratocyst.

Oh JS, You JS, Kim SG

Journal of dental sciences 2018; (13(4)):329-333 doi:10.1016/j.jds.2018.06.001.

Medulloblastoma With Metastasis to the Jaw in a Child With Nevoid Basal Cell Carcinoma Syndrome: A Case Report.

Cartrite M, Yang D, Farr B, Stone J

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 2019; (77(11)):2279-2284 doi:10.1016/j.joms.2019.06.007.

Ocular manifestations in Gorlin-Goltz syndrome.

Moramarco A, Himmelblau E, Miraglia E, et al.

Orphanet journal of rare diseases 2019; (14(1)):218 doi:10.1186/s13023-019-1190-6.

Long-term Response to Vismodegib in a Patient with Gorlin-Goltz Syndrome: A Case Report and Review of Pathological Mechanisms Involved.

Kesireddy M, Mendiola VL, Jana B, Patel S

Cureus 2019; (11(8)):e5383 doi:10.7759/cureus.5383.

A Rare Case of Gorlin-Goltz Syndrome in Children.

Boos Lima FBDJ, Viana APC, Lima LHF, et al.

Case reports in dentistry 2019; (2019()):1608783 doi:10.1155/2019/1608783.

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.

Casano K, Meddaugh H, Zambrano RM, et al.

European journal of medical genetics 2020; (63(4)):103842 doi:10.1016/j.ejmg.2020.103842.

Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Waszak SM, Robinson GW, Gudenas BL, et al.

Nature 2020; (580(7803)):396-401 doi:10.1038/s41586-020-2164-5.

Amenorrhea secondary to vismodegib: An adverse event to consider especially in female patients with Gorlin-Goltz syndrome.

Russo F, Provvidenziale L, Mancini V, et al.

Dermatologic therapy 2020; (33(4)):e13527 doi:10.1111/dth.13527.

Genomic profiling of late-onset basal cell carcinomas from two brothers with nevoid basal cell carcinoma syndrome.

Hasan Ali O, Yurchenko AA, Pavlova O, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2021; (35(2)):396-402 doi:10.1111/jdv.16767.

Basaloid follicular proliferations, brain tumours and SUFU.

Manam S, Oliphant T, Husain A, Rajan N

The British journal of dermatology 2020; (183(5)):e146 doi:10.1111/bjd.19248.

5-aminolevulinic acid photodynamic therapy and excision surgery for nevoid basal cell carcinoma syndrome with multiple basal cell carcinomas and PTCH1 mutation.

Li C, Chen P, Li Z, et al.

Photodiagnosis and photodynamic therapy 2020; (32()):101968 doi:10.1016/j.pdpdt.2020.101968.

Basal cell nevus syndrome: From DNA to therapeutics.

Lin MJ, Dubin DP, Khorasani H, Giordano CN

Clinics in dermatology 2020; (38(4)):467-476 doi:10.1016/j.clindermatol.2020.03.003.

Genetic aspects of Gorlin‒Goltz syndrome

Vetró É, Oláh J, Nagy D, et al.

Orvosi hetilap 2020; (161(49)):2072-2077 doi:10.1556/650.2020.31933.

Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome.

Nakase Y, Hamada A, Kitamura N, et al.

Human genome variation 2020; (7(1)):38 doi:10.1038/s41439-020-00126-6.

Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.

Kim B, Kim MJ, Hur K, et al.

Scientific reports 2021; (11(1)):1163 doi:10.1038/s41598-020-80867-0.

Studying the multiple faces of nevoid basal-cell carcinoma syndrome: A case series.

Saxena S, Sundaragiri KS, Bhargava A, Sankhla B

Journal of oral and maxillofacial pathology : JOMFP 2020; (24(2)):315-321 doi:10.4103/jomfp.JOMFP_358_19.

Gorlin-Goltz syndrome with familial manifestation.

Pazdera J, Santava A, Kolar Z

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2022; (166(1)):112-116 doi:10.5507/bp.2020.063.

Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).

Guerrini-Rousseau L, Smith MJ, Kratz CP, et al.

Familial cancer 2021; (20(4)):317-325 doi:10.1007/s10689-021-00247-z.

Basal Cell Nevus Syndrome with Unusual Associated Findings: A Case Report with 17 Years of Follow-Up.

Sena YR, Jácome-Santos H, Alves Junior SM, et al.

The American journal of case reports 2021; (22()):e928670 doi:10.12659/AJCR.928670.

Basaloid Follicular Hamartoma: An Additional Criterion of Nevoid Basal Cell Carcinoma Syndrome.

Chikeka I, Chang LW, Collins MK, et al.

The American Journal of dermatopathology 2022; (44(1)):66-69 doi:10.1097/DAD.0000000000001987.

Hedgehog/GLI Signaling Pathway: Transduction, Regulation, and Implications for Disease.

Sigafoos AN, Paradise BD, Fernandez-Zapico ME

Cancers 2021; (13(14)) doi:10.3390/cancers13143410.

Sonidegib after vismodegib discontinuation in a patient with Gorlin-Goltz syndrome and multiple basal cell carcinomas.

Piccerillo A, Di Stefani A, Costantini A, Peris K

Dermatologic therapy 2021; (34(5)):e15095 doi:10.1111/dth.15095.

Basal cell nevus syndrome: an update on clinical findings.

Fernández LT, Ocampo-Garza SS, Elizondo-Riojas G, Ocampo-Candiani J

International journal of dermatology 2022; (61(9)):1047-1055 doi:10.1111/ijd.15884.

Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization.

Gold NB, Campbell IM, Sheppard SE, Tan WH

Scientific reports 2021; (11(1)):19791 doi:10.1038/s41598-021-98752-9.

A case of skin lesions of basal cell nevus syndrome.

Chen L, Sun H, Zuo M, Xi Q

Postepy dermatologii i alergologii 2021; (38(4)):706-707 doi:10.5114/ada.2021.108902.

Using drug scheduling to manage adverse events associated with hedgehog pathway inhibitors for basal cell carcinoma.

Lear JT, Dummer R, Guminski A

Oncotarget 2021; (12(26)):2531-2540 doi:10.18632/oncotarget.28145.

Basal cell carcinomas acquire secondary mutations to overcome dormancy and progress from microscopic to macroscopic disease.

Trieu KG, Tsai SY, Eberl M, et al.

Cell reports 2022; (39(5)):110779 doi:10.1016/j.celrep.2022.110779.

Update on Hedgehog Pathway Inhibitor Therapy for Patients with Basal Cell Naevus Syndrome or High-frequency Basal Cell Carcinoma.

Verkouteren BJA, Sinx KAE, Reinders MGHC, et al.

Acta dermato-venereologica 2022; doi:10.2340/actadv.v102.980.

A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma.

Qiu F, Lei S, Zhang L, et al.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022; (47(3)):384-389 doi:10.11817/j.issn.1672-7347.2022.200925.

Advanced basal cell carcinoma: What dermatologists need to know about diagnosis.

Krakowski AC, Hafeez F, Westheim A, et al.

Journal of the American Academy of Dermatology 2022; (86(6S)):S1-S13 doi:10.1016/j.jaad.2022.03.023.

Eight Years of Real-Life Experience with Smoothened Inhibitors in a Swiss Tertiary Skin Referral Center.

Grossmann LE, Ramelyte E, Nägeli MC, Dummer R

Cancers 2022; (14(10)) doi:10.3390/cancers14102496.

Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones.

Spadari F, Pulicari F, Pellegrini M, et al.

Maxillofacial plastic and reconstructive surgery 2022; (44(1)):25 doi:10.1186/s40902-022-00355-5.

Nevoid Basal Cell Carcinoma Syndrome: Clinical Features, Treatment, and Diagnostic Criteria.

Zhang T, Chen R, Guo S

The Journal of craniofacial surgery 2022; (33(6)):e557-e559 doi:10.1097/SCS.0000000000008445.

Clinical, radiographic, pathological and inherited characteristics of odontogenic keratocyst in nevoid basal cell carcinoma syndrome: a study in three Chilean families.

Castillo-Tobar A, Urzúa B, Tirreau V, et al.

Oral radiology 2023; (39(3)):518-527 doi:10.1007/s11282-022-00664-5.

A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.

Kojic M, Abbassi NEH, Lin TY, et al.

Journal of human genetics 2023; (68(7)):445-453 doi:10.1038/s10038-023-01135-3.

Cardiac Fibroma with Asymptomatic Ventricular Arrhythmia in an Adolescent with Gorlin's Syndrome.

Menon D, Dentel JN, Sanil Y, Lawrence D

Journal of pediatric genetics 2023; (12(2)):171-174 doi:10.1055/s-0040-1722287.

Concurrent medulloblastoma and cardiac fibroma: a rare presentation of Gorlin-Goltz syndrome.

Alanazi R, Alkhaibary A, Alfaqawwy W, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2023; (39(9)):2499-2504 doi:10.1007/s00381-023-05970-9.

Bilateral ovarian fibromas as the sole manifestation of Gorlin syndrome in a 22-year-old woman: a case report and literature review.

Zhu M, Li J, Duan J, et al.

Diagnostic pathology 2023; (18(1)):118 doi:10.1186/s13000-023-01406-9.

Exploring the Changing Diagnostic Criteria of Gorlin-Goltz Syndrome: A Case Report.

Shetty SK, Doddawad VG, Sundar S, S S

Oncology (Williston Park, N.Y.) 2023; (37(11)):449-554 doi:10.46883/2023.25921007.

Recurrence Patterns of Odontogenic Keratocysts in Syndromic and Non-Syndromic Patients.

Van Cleemput T, Jackers X, Piagkou M, Politis C

Journal of maxillofacial and oral surgery 2024; (23(1)):152-158 doi:10.1007/s12663-023-01920-9.

Conservative management of multiple odontogenic keratocysts in a child with nevoid basal cell carcinoma syndrome: A case report.

de Arruda JAA, de Lima KFA, de Oliveira Filho OV, et al.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2024; (44(5)):1383-1392 doi:10.1111/scd.13007.

Further Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.

Kolkiran A, Şimşek-Kiper PÖ, Topaloğlu Yasan G, et al.

Molecular syndromology 2024; (15(3)):175-184 doi:10.1159/000535407.

Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.

Mochizuki AY, Nagaraj CB, Depoorter D, et al.

American journal of medical genetics. Part A 2024; (194(10)):e63788 doi:10.1002/ajmg.a.63788.

Gorlin Syndrome-Associated Basal Cell Carcinomas Treated with Vismodegib or Sonidegib: A Retrospective Study.

Murgia G, Valtellini L, Denaro N, et al.

Cancers 2024; (16(12)) doi:10.3390/cancers16122166.

Oral smoothened inhibitors for Gorlin syndrome: A clinical review.

Baczynski A, Cahn B, Worley B, et al.

Journal of the American Academy of Dermatology 2024; (91(4)):706-711 doi:10.1016/j.jaad.2024.06.047.

Management and recurrence of the odontogenic keratocyst: an overview of systematic reviews.

Gonçalves TOF, Rangel RMR, Marañón-Vásquez GA, et al.

Oral and maxillofacial surgery 2024; (28(4)):1457-1478 doi:10.1007/s10006-024-01277-4.

Exploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report.

Liu Y, Gao X, Cao L, et al.

Rare tumors 2024; (16()):20363613241290394 doi:10.1177/20363613241290394.

Re-evaluation of the concept of basaloid follicular hamartoma associated with naevoid basal cell carcinoma syndrome: a morphological, immunohistochemical and molecular study.

Barbieux S, Jouenne F, Machet MC, et al.

Pathology 2025; (57(1)):49-56 doi:10.1016/j.pathol.2024.06.013.

Cardiac involvement of Gorlin-Goltz syndrome: new light among the shadows of an old congenital disorder.

Celeski M, Segreti A, Nusca A, et al.

Monaldi archives for chest disease = Archivio Monaldi per le malattie del torace 2026; (96(1)) doi:10.4081/monaldi.2025.3251.

Real-world experience with vismodegib and sonidegib in advanced basal cell carcinoma: a multicenter Italian study.

Valenti M, Di Giulio S, Carugno A, et al.

Dermatology reports 2025; (17(3)) doi:10.4081/dr.2025.10196.

Alternate Dosing Regimens for Vismodegib: A Literature Review.

Yang K, Ho-Pham H, Pieper C, et al.

Current treatment options in oncology 2025; (26(7)):587-591 doi:10.1007/s11864-025-01332-6.

Comparison of Symptoms and Disease Progression in a Mother and Son with Gorlin-Goltz Syndrome: A Case Report.

Adamska A, Woźniak D, Regulski P, Zawadzki P

Journal of clinical medicine 2025; (14(14)) doi:10.3390/jcm14145151.

Clinical and Molecular Study of a Gorlin Syndrome Type 1 Case.

Yapijakis C, Ziakas N, Gintoni I, et al.

Advances in experimental medicine and biology 2026; (1487()):99-104 doi:10.1007/978-3-032-03398-7_11.

Expanding the clinicopathological spectrum of nevoid basal cell carcinoma syndrome associated with odontogenic keratocyst in the Indian population: an institutional experience of 39 cases and review of the literature.

Bansal SP, Desai RS, Patil MS

International journal of oral and maxillofacial surgery 2026; (55(5)):532-541 doi:10.1016/j.ijom.2025.12.008.

Clinical profile and prevalence of odontogenic keratocysts in children and adolescents: A systematic review.

Cunha JDS, Severino-Lazo R, Felipe Junior J, et al.

Journal of oral biology and craniofacial research 2026; (16(2)):101414 doi:10.1016/j.jobcr.2026.101414.