2,230 results match your criteria Gorlin Syndrome


Mesenteric cyst and recurrent abdominal pain in a patient with Gorlin-Goltz syndrome: a case report.

G Chir 2019 Jan-Feb;40(1):66-69

Gorlin-Goltz syndrome (GGS) is an infrequent autosomal do-minant multisystemic disease with complete penetrance and variable expressivity. It is estimated to have an incidence of 1:50,000 - 1:150,000 cases with a M/F = 1:1. This report describes a case of recurrent abdominal pain due to a large mesenteric cyst in a 38-year-old female patient affected by a rare disease: Gorlin-Goltz syndrome. Read More

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February 2019

Nevoid Basal Cell Carcinoma Syndrome: Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients.

Cells 2019 Feb 11;8(2). Epub 2019 Feb 11.

Laboratorio de Nefrología Experimental y Bioquímica Molecular, Instituto de Investigaciones Médicas "Alfredo Lanari", Facultad de Medicina, Universidad de Buenos Aires, 1427 Buenos Aires, Argentina.

Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCC), mainly caused by gene mutations. Our current study aimed to establish (1) germinal and somatic mutational status, (2) component and Hedgehog (HH) pathway targets gene expression patterns, and (3) profile variations according to the genetic background in BCC and normal surrounding skin (NSS). We collected 23 blood and 20 BCC patient samples and analyzed the gene using bidirectional sequencing and multiplex ligation-dependent probe amplification. Read More

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http://dx.doi.org/10.3390/cells8020144DOI Listing
February 2019
1 Read

Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome - a case report.

Head Face Med 2019 Feb 8;15(1). Epub 2019 Feb 8.

Department of Oral and Maxillofacial Surgery, University Hospital "Carl Gustav Carus", Technische Universität Dresden, Fetscherstr. 74, D-01307, Dresden, Germany.

Background: The Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by keratocystic odontogenic tumors in the jaws, multiple basal cell carcinomas and skeletal abnormities. Frequently, the manifestation of the syndrome occurs in the adolescent years.

Case Presentation: An 11-year-old boy was referred to our clinic due to the persistence of the lower deciduous molars. Read More

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http://dx.doi.org/10.1186/s13005-019-0189-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6367745PMC
February 2019

Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors.

Eur J Hum Genet 2019 Jan 29. Epub 2019 Jan 29.

Institute of Biochemistry and Molecular Biology, Ulm University, 89081, Ulm, Germany.

Meier-Gorlin syndrome (MGS) is a rare, congenital primordial microcephalic dwarfism disorder. MGS is caused by genetic variants of components of the origin recognition complex (ORC) consisting of ORC1-6 and the pre-replication complex, which together enable origin firing and hence genome replication. In addition, ORC1 has previously been shown to play a role in ciliogenesis. Read More

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http://dx.doi.org/10.1038/s41431-019-0338-0DOI Listing
January 2019

Growth failure in focal dermal hypoplasia.

Am J Med Genet A 2019 Jan 28. Epub 2019 Jan 28.

USDA/ARS Children's Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, Texas Children's Hospital, Houston, Texas.

Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X chromosome. Short stature was previously noted to be a common finding in FDH, however the etiology of this is unclear. The present study sought to elucidate specific causes for short stature by assessing growth charts, determining bone ages and auxologic measurements, examining laboratory data for the common causes of growth failure, assessing dietary intake, and performing a growth hormone stimulation test. Read More

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http://dx.doi.org/10.1002/ajmg.a.61051DOI Listing
January 2019
1 Read

[Histopathological study of basaloid follicular hamartoma].

Ann Dermatol Venereol 2019 Jan 25. Epub 2019 Jan 25.

Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg cedex, France.

Introduction: Basaloid follicular hamartoma (BFH) is a rare tumor first described in 1985. It bears clinical and histologic similarities with basal cell carcinoma (BCC), in particular the so-called infundibulocystic form. We performed a single-center clinicopathological study of a series of typical cases of this entity that is occasionally difficult to diagnose. Read More

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http://dx.doi.org/10.1016/j.annder.2018.12.007DOI Listing
January 2019
1 Read

Skin Cancer Associated Genodermatoses: A Literature Review.

Acta Derm Venereol 2019 01 17. Epub 2019 Jan 17.

Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense, Denmark.

Skin cancer has become the most common type of cancer worldwide as a result of environmental exposure and medical treatments. A small group of patients are genetically predisposed to skin cancer and this article is intended as a diagnostic tool when encountering patients with multiple skin cancer lesions. The disorders are described with clinical characteristics, genetics and management. Read More

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http://dx.doi.org/10.2340/00015555-3123DOI Listing
January 2019
7 Reads

Imaging features of uterine and ovarian fibromatosis in Nevoid Basal Cell Carcinoma Syndrome.

J Radiol Case Rep 2018 Sep 30;12(9):21-30. Epub 2018 Sep 30.

Department of Radiology, Azienda Ospedaliero-Universitaria Policlinico di Modena, Italy.

Gorlin-Goltz Syndrome also known as Nevoid Basal Cell Carcinoma Syndrome is an autosomal dominant multisystem disorder. It is characterized by basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities and in a minority of female patients bilateral calcified ovarian fibromas. It is challenging to radiologically assess ovarian fibromas as they have similar imaging patterns to some malignant ovarian lesions. Read More

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http://dx.doi.org/10.3941/jrcr.v12i9.3390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312044PMC
September 2018
1 Read

Clinical Characteristics of Basal Cell Carcinoma in African Americans: A 10-Year Retrospective Review at a Single Academic Institution.

Dermatol Surg 2019 Jan 4. Epub 2019 Jan 4.

Department of Medicine, Division of Dermatology, Center for Dermatologic and Cosmetic Surgery, Washington University in St. Louis, St. Louis, Missouri.

Background: Basal cell carcinoma (BCC) is an uncommon diagnosis in African Americans, and as a result, there is a limited amount of data available.

Objective: We sought to describe the clinical characteristics of BCC in African Americans treated with Mohs micrographic surgery (MMS).

Methods: We performed a retrospective case series in an ambulatory referral center at a single academic institution from 2007 to 2017 to characterize BCCs in African Americans treated with MMS. Read More

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http://dx.doi.org/10.1097/DSS.0000000000001744DOI Listing
January 2019
1 Read

Helicase Subunit Cdc45 Targets the Checkpoint Kinase Rad53 to Both Replication Initiation and Elongation Complexes after Fork Stalling.

Mol Cell 2019 Feb 27;73(3):562-573.e3. Epub 2018 Dec 27.

Wellcome Trust/Cancer Research UK Gurdon Institute and Department of Biochemistry, The Henry Wellcome Building of Cancer and Developmental Biology, University of Cambridge, Cambridge CB2 1QN, UK. Electronic address:

Across eukaryotes, disruption of DNA replication causes an S phase checkpoint response, which regulates multiple processes, including inhibition of replication initiation and fork stabilization. How these events are coordinated remains poorly understood. Here, we show that the replicative helicase component Cdc45 targets the checkpoint kinase Rad53 to distinct replication complexes in the budding yeast Saccharomyces cerevisiae. Read More

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http://dx.doi.org/10.1016/j.molcel.2018.11.025DOI Listing
February 2019
1 Read

Sonic Hedgehog Signaling is Blue: Insights from the Patched Mutant Mice.

Trends Neurosci 2018 Dec;41(12):870-872

Departments of Cancer Biology and Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, USA; Department of Neurobiology, Harvard Medical School, Boston, MA, USA. Electronic address:

The Hedgehog (Hh) pathway is a highly conserved signaling system regulating a range of developmental processes. A 1997 paper by Goodrich and colleagues provided major contributions to understanding the Hh pathway by mutating the gene encoding the Hh receptor, Patched, and thereby developing a mouse model for a human cancer predisposition syndrome, known as Gorlin syndrome. These studies provided one of the first genetically engineered mouse models for brain tumors. Read More

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http://dx.doi.org/10.1016/j.tins.2018.08.013DOI Listing
December 2018
13 Reads

Meier-Gorlin syndrome: an additional case report in an adult woman.

Clin Dysmorphol 2018 Nov 19. Epub 2018 Nov 19.

Department of Endocrinology, Faculty of Medicine of Tunis, University of Tunis El Manar, La Rabta Hospital, Tunis, Tunisia.

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http://dx.doi.org/10.1097/MCD.0000000000000253DOI Listing
November 2018
1 Read
0.416 Impact Factor

An Update of Gorlin-Goltz Syndrome.

Prim Dent J 2018 Sep;7(3):38-41

Gorlin-Goltz syndrome encompasses a variety of clinical signs and symptoms including important oral manifestations which general dental practitioners should be aware of. In light of the risk of malignancy it is important to be aware of this syndrome and recognise the need for early referral for multidisciplinary management. This paper aims to discuss Gorlin-Goltz syndrome, the pathophysiology of the condition and address the wide range of clinical manifestations. Read More

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September 2018
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Whole-exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation data.

Mol Genet Genomic Med 2018 11 8;6(6):1168-1180. Epub 2018 Nov 8.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

Background: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder with variable expression and nearly complete penetrance. PTCH1 is the major susceptibility locus and has no known hot spots or genotype-phenotype relationships.

Methods: We evaluated 18 NBCCS National Cancer Institute (NCI) families plus PTCH1 data on 333 NBCCS disease-causing mutations (DM) reported in the Human Gene Mutation Database (HGMD). Read More

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http://doi.wiley.com/10.1002/mgg3.498
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http://dx.doi.org/10.1002/mgg3.498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305672PMC
November 2018
10 Reads

Wilms Tumor Associated With the 9q22.3 Microdeletion Syndrome: 2 New Case Reports and a Review of The Literature.

J Pediatr Hematol Oncol 2018 Oct 26. Epub 2018 Oct 26.

Paediatric Urology, The Royal Children's Hospital.

Background: The 9q22.3 syndrome is an autosomal dominant microdeletion syndrome with similarities to Gorlin syndrome (GS). It encompasses the PTCH1 gene locus that harbors mutations for GS. Read More

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http://Insights.ovid.com/crossref?an=00043426-900000000-9772
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http://dx.doi.org/10.1097/MPH.0000000000001322DOI Listing
October 2018
15 Reads

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.

Am J Med Genet A 2018 Nov 17;176(11):2479-2486. Epub 2018 Oct 17.

Laboratorio de Enfermedades Mitocondriales, Instituto de Investigación Hospital 12 de Octubre (i+12), Madrid, Spain.

We report the clinical and genetic findings in a 15-year-old Spanish boy presenting prenatal and postnatal growth retardation, reduced subcutaneous adipose tissue, premature skin wrinkling, sparse hair, short distal phalanges with small nails, umbilical hernia, wide anterior fontanel, and normal cognitive and motor development. Exome sequencing uncovered a heterozygous mutation in SLC25A24 (NM_013386: c.650G>A: p. Read More

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http://dx.doi.org/10.1002/ajmg.a.40496DOI Listing
November 2018
14 Reads

Multiple, Multiloculated, and Recurrent Keratocysts of the Mandible and Maxilla in Association with Gorlin-Goltz (Nevoid Basal-Cell Carcinoma) Syndrome: A Pediatric Case Report and Follow-up over 5 Years.

Case Rep Dent 2018 19;2018:7594840. Epub 2018 Sep 19.

Department of Maxillofacial Surgery, University Medical Center, Göttingen, Germany.

Background: We report a case of multiple keratocysts first diagnosed in an 8-year-old boy.

Case Report: The incidental radiographic finding of a cystic lesion in an 8-year-old boy led to the surgical enucleation and further diagnosis of a keratocyst associated with a tooth crown. In the course of dental maturation from deciduous to permanent teeth, the boy presented new lesions, always associated with the crowns of teeth. Read More

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https://www.hindawi.com/journals/crid/2018/7594840/
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http://dx.doi.org/10.1155/2018/7594840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169230PMC
September 2018
5 Reads

Non syndromic synchronous multiple odontogenic keratocysts in a western Indian population: A series of four cases.

J Clin Exp Dent 2018 Aug 1;10(8):e831-e836. Epub 2018 Aug 1.

MDS, Assistant Professor, Department of Oral Pathology, RUHS College of Dental Sciences, Jaipur, Rajasthan, India.

Odontogenic keratocysts (OKCs) are developmental odontogenic cysts affecting the maxillofacial region and their association with a syndrome especially Naevoid basal cell carcinoma syndrome (NBCCS) is a common occurrence in comparison to non syndromic multiple OKCs. In a first, we present a series of four non syndromic cases with multiple OKCs in western Indian population. The presence of multiple OKC in our present case series may be because of the multifocal nature of the lesion rather than its association with any syndrome. Read More

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http://dx.doi.org/10.4317/jced.54616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174012PMC
August 2018
2 Reads

Overexpression of Desmoglein 2 in a Mouse Model of Gorlin Syndrome Enhances Spontaneous Basal Cell Carcinoma Formation through STAT3-Mediated Gli1 Expression.

J Invest Dermatol 2019 Feb 3;139(2):300-307. Epub 2018 Oct 3.

Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Sydney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA; Leeds Institute of Cancer and Pathology, University of Leeds, UK; School of Molecular and Cellular Biology, University of Leeds, United Kingdom. Electronic address:

Activation of the hedgehog pathway is causative of virtually all sporadic and Gorlin syndrome-related basal cell carcinomas (BCCs), with loss of function of Ptc1 being the most common genomic lesion. Sporadic BCCs also overexpress Dsg2, a desmosomal cadherin normally found in the basal layer. Using a mouse model of Gorlin syndrome (Ptc1 mice), we found that overexpressing Dsg2 in the basal layer (K14-Dsg2/Ptc1 mice) or the superficial epidermis (Inv-Dsg2/Ptc1 mice) resulted in increased spontaneous BCC formation at 3 and 6 months, respectively. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183264
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http://dx.doi.org/10.1016/j.jid.2018.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342634PMC
February 2019
26 Reads

Cdt1 variants reveal unanticipated aspects of interactions with Cyclin/CDK and MCM important for normal genome replication.

Mol Biol Cell 2018 Oct 3:mbcE18040242. Epub 2018 Oct 3.

Curriculum in Genetics and Molecular Biology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

The earliest step in DNA replication is origin licensing which is the DNA loading of MCM helicase complexes. The Cdt1 protein is essential for MCM loading during G1 phase of the cell cycle, yet the mechanism of Cdt1 function is still incompletely understood. We examined a collection of rare Cdt1 variants that cause a form of primordial dwarfism (Meier-Gorlin syndrome) plus one hypomorphic Drosophila allele to shed light on Cdt1 function. Read More

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http://dx.doi.org/10.1091/mbc.E18-04-0242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333176PMC
October 2018

Dermoscopy of Adnexal Tumors.

Dermatol Clin 2018 Oct 16;36(4):397-412. Epub 2018 Aug 16.

Dermatology Department, Hospital General Universitario de Alicante, ISABIAL, C/Maestro Alonso 109, 03010 Alicante, Spain.

Cutaneous adnexal tumors include lesions with apocrine, eccrine, follicular, sebaceous, and mixed differentiation. Most are benign and sporadic, although malignant forms are occasionally observed and some cases develop in the setting of inherited syndromes. These tumors often cause immense diagnostic difficulty. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S07338635183107
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http://dx.doi.org/10.1016/j.det.2018.05.007DOI Listing
October 2018
15 Reads

Gorlin Syndrome Presentation and the Importance of Differential Diagnosis of Skin Cancer: A Case Report.

J Pharm Pharm Sci 2018 ;21(1s):222s-224s

Faculty of Pharmacy and Pharmaceutical Sciences, University of Alberta, Edmonton, Canada.

In a busy community practice, clinical skin findings can often be misinterpreted. Skin cancers can sometimes mimic rashes like psoriasis, eczema or prurigo nodularis in both appearance and symptoms. Gorlin syndrome is one such genetic syndrome, characterized by the eruption of multiple and early onset basal cell carcinomas (BCCs), which can be mistaken for a rash. Read More

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http://dx.doi.org/10.18433/jpps30150DOI Listing
January 2018
3 Reads

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

Int J Radiat Oncol Biol Phys 2018 10 2;102(2):417-425. Epub 2018 Jun 2.

Laboratory of Genomics and Radiobiology of Keratinopoiesis, CEA, DRF/IFJ/iRCM, INSERM/UMR967, Université Paris-Diderot, Université Paris-Saclay, Evry, France. Electronic address:

Purpose: Gorlin syndrome (or basal-cell nevus syndrome) is a cancer-prone genetic disease in which hypersusceptibility to secondary cancer and tissue reaction after radiation therapy is debated, as is increased radiosensitivity at cellular level. Gorlin syndrome results from heterozygous mutations in the PTCH1 gene for 60% of patients, and we therefore aimed to highlight correlations between intrinsic radiosensitivity and PTCH1 gene expression in fibroblasts from adult patients with Gorlin syndrome.

Methods And Materials: The radiosensitivity of fibroblasts from 6 patients with Gorlin syndrome was determined by cell-survival assay after high (0. Read More

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http://dx.doi.org/10.1016/j.ijrobp.2018.05.057DOI Listing
October 2018
5 Reads

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.

J Hum Genet 2018 Nov 4;63(11):1189-1193. Epub 2018 Sep 4.

Department of Paediatrics, University of Szeged, Szeged, Hungary.

Heterozygous disruptions in FOXP1 are responsible for developmental delay, intellectual disability and speech deficit. Heterozygous germline PTCH1 disease-causing variants cause Gorlin syndrome. We describe a girl with extreme megalencephaly, developmental delay and severe intellectual disability. Read More

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http://dx.doi.org/10.1038/s10038-018-0508-xDOI Listing
November 2018

Gorlin-Goltz Syndrome: A Rare Case Report.

Contemp Clin Dent 2018 Jul-Sep;9(3):478-483

Departments of Oral Medicine and Radiology, Vydehi Institute of Dental Sciences and Research Centre, Bengaluru, Karnataka, India.

Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder with a high degree of penetrance and variable expressivity. It is a rare phakomatosis characterized by multiple odontogenic keratocysts (OKCs), bifid ribs, and other abnormalities. The incidence of the GGS is estimated at 1 in 57,000-1 in 256,000 in the general population. Read More

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http://dx.doi.org/10.4103/ccd.ccd_96_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6104368PMC
September 2018

Generalized basaloid follicular hamartoma syndrome versus Gorlin syndrome: A diagnostic challenge.

Pediatr Dermatol 2018 Nov 28;35(6):e396-e397. Epub 2018 Aug 28.

Department of Dermatology, College of Medicine, Drexel University, Philadelphia, Pennsylvania.

Basaloid follicular hamartoma is a relatively rare benign neoplasm of follicular origin that can be mistaken histologically for basal cell carcinoma, but hereditary forms of basaloid follicular hamartoma are associated with nevoid basal cell carcinoma syndrome, or Gorlin syndrome. The pathophysiology of basaloid follicular hamartoma development involves mutations in the patched gene, which is also causative in nevoid basal cell carcinoma syndrome. We present a mother and daughter with basaloid follicular hamartomas, with genetic testing confirming patched gene mutation in the daughter. Read More

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http://doi.wiley.com/10.1111/pde.13614
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http://dx.doi.org/10.1111/pde.13614DOI Listing
November 2018
3 Reads

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

Mol Syndromol 2018 Jul 19;9(4):219-223. Epub 2018 May 19.

Division of Human Genetics.

Pediatric cardiac tumors are rare and often benign with an incidence of approximately 0.03-0.32% and can be associated with genetic conditions. Read More

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http://dx.doi.org/10.1159/000489056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103330PMC
July 2018
3 Reads

Gorlin-Goltz syndrome: a case series from north Italy.

Eur J Dermatol 2018 Oct;28(5):687-688

Dept. of Health Science, University of Eastern Piedmont, Novara, Italy.

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http://dx.doi.org/10.1684/ejd.2018.3338DOI Listing
October 2018
1 Read

Infantile-onset palmo-plantar basal cell carcinomas and pits in Gorlin syndrome.

JAAD Case Rep 2018 Aug 8;4(7):662-664. Epub 2018 Aug 8.

CHU de Quebec-Universite Laval, Quebec City, Quebec, Canada.

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http://dx.doi.org/10.1016/j.jdcr.2018.06.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6088813PMC
August 2018
2 Reads

Multiple Odontogenic Cysts and Intracranial Calcification: Gorlin-Goltz Syndrome.

Radiology 2018 Oct 14;289(1):29. Epub 2018 Aug 14.

From the Guangdong General Hospital, No.106, Zhongshan 2nd Road, Yuexiu District, Guangzhou city, Guangdong Province, China.

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http://dx.doi.org/10.1148/radiol.2018180876DOI Listing
October 2018

Odontogenic keratocyst: imaging features of a benign lesion with an aggressive behaviour.

Insights Imaging 2018 Oct 31;9(5):883-897. Epub 2018 Jul 31.

Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.

The latest (4th) edition of the World Health Organization (WHO) Classification of Head and Neck Tumours, published in January 2017, has reclassified keratocystic odontogenic tumour as odontogenic keratocyst. Therefore, odontogenic keratocysts (OKCs) are now considered benign cysts of odontogenic origin that account for about 10% of all odontogenic cysts. OKCs arise from the dental lamina and are characterised by a cystic space containing desquamated keratin with a uniform lining of parakeratinised squamous epithelium. Read More

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http://dx.doi.org/10.1007/s13244-018-0644-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206371PMC
October 2018
13 Reads

Vismodegib: A Review in Advanced Basal Cell Carcinoma.

Drugs 2018 Jul;78(11):1145-1156

Department of Dermatology, Hôpital Saint Louis, Université Paris 7, Paris, France.

Vismodegib (Erivedge) is the first-in-class, oral small molecule inhibitor of the Hedgehog (Hh) pathway, abnormal activation of which is associated with basal cell carcinoma (BCC). In the USA, vismodegib is indicated for the treatment of adults with metastatic BCC (mBCC) or with locally-advanced BCC (LaBCC) that has recurred following surgery or who are not candidates for surgery, and who are not candidates for radiation. Similarly, in the EU, vismodegib is indicated for the treatment of adult patients with symptomatic mBCC, or with laBCC inappropriate for surgery or radiotherapy. Read More

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http://dx.doi.org/10.1007/s40265-018-0948-9DOI Listing
July 2018
2 Reads

Dentofacial characteristics in a child with Meier-Gorlin syndrome: A rare case report.

Saudi Dent J 2018 Jul 16;30(3):260-264. Epub 2018 May 16.

Unit of Pedodontics and Preventive Dentistry, Oral Health Sciences Centre, PGIMER, Chandigarh, India.

Meier-Gorlin syndrome (MGS) is a rare autosomal recessive disorder characterized by the triad of microtia, absent or small patellae and short stature. The other associated clinical features may include developmental delay, congenital pulmonary emphysema, gastro-esophageal reflux, urogenital anomalies, such as cryptorchidism and feeding problems. The facial characteristics during childhood are typical, comprising of a small mouth with full lips and micrognathia/retrognathia. Read More

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http://dx.doi.org/10.1016/j.sdentj.2018.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011216PMC

PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome.

J Hum Genet 2018 Sep 21;63(9):965-969. Epub 2018 Jun 21.

Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.

Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have different isoforms with different functional properties and expression patterns among tissues. We detected a novel, pathogenic de novo mutation in PTCH1 isoform 1b (c. Read More

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http://dx.doi.org/10.1038/s10038-018-0485-0DOI Listing
September 2018
6 Reads

Gorlin-Goltz syndrome: first reported case of bullae in the lungs complicated with tension pneumothorax.

Authors:
Darren Yap

BMJ Case Rep 2018 Jun 20;2018. Epub 2018 Jun 20.

Otolarnygology, Royal Berkshire Hospital, Reading, UK.

A 13-year-old girl was referred by her general practitioner with acute worsening exertional dyspnoea and sudden onset of left-sided chest pain. There was no associated trauma, palpitations or syncope. Clinical examination revealed that the left lung was hyper-resonant on percussion with reduced air entry on auscultation. Read More

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http://dx.doi.org/10.1136/bcr-2017-223689DOI Listing
June 2018
13 Reads

Solitary plantar basal cell carcinoma.

An Bras Dermatol 2018 Jun;93(3):419-421

Dermatologic Surgery Service, Hospital Heliópolis, São Paulo, SP, Brazil.

Basal cell carcinoma is the most frequent skin cancer, generally located in hair-bearing, sunlight-exposed areas. Basal cell carcinoma usually occurs on the head and neck, but very rarely on extra-facial locations. We report a case of a 65-year-old woman presenting with a solitary non-healing ulcer on the sole of the right foot for two years. Read More

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http://dx.doi.org/10.1590/abd1806-4841.20187079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6001094PMC
June 2018
4 Reads

Van der Woude and Popliteal Pterygium Syndromes.

J Craniofac Surg 2018 Sep;29(6):1434-1436

Association PIEL.

: Van der Woude syndrome is the most generic form of syndromic orofacial cleft, present in approximately 2% of all cleft patients. The lower lip pits with or without cleft lip and/or palate is typical of this syndrome. Popliteal pterygium syndrome (PPS), also known as popliteal web syndrome or fasciogenito-popliteal syndrome, was first described by Trelat in 1869, the incidence is approximately 1 in 300,000 live births. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004698DOI Listing
September 2018
1 Read

Supraclavicular Dermo-Muscular Agenesis in an Infant With Gorlin-Goltz Syndrome.

J Craniofac Surg 2018 Oct;29(7):e654-e656

Department of Plastic, Reconstructive and Aesthetic Surgery, Faculty of Medicine, Yuzuncu Yil University, Van, Turkey.

Gorlin-Goltz syndrome (GGS) is generally characterized by the dysplasia of the skin, skeletal system, and connective tissue. In this paper, a 40-day-old baby presented with dermal and muscular agenesis on the right supraclavicular region and clinically diagnosed with GGS will be reported. To the best of the authors' knowledge, this is the first report of GGS in the literature accompanied by muscular agenesis and also this is the youngest patient diagnosed with GGS. Read More

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http://Insights.ovid.com/crossref?an=00001665-900000000-9554
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http://dx.doi.org/10.1097/SCS.0000000000004667DOI Listing
October 2018
5 Reads

Long-term topical corticosteroid use and risk of skin cancer: a systematic review.

JBI Database System Rev Implement Rep 2018 Jun;16(6):1387-1397

The Nottingham Centre for Evidence-Based Healthcare: a Joanna Briggs Institute Centre of Excellence.

Objective: The objective of this systematic review was to synthesize available research evidence to determine the risk of skin cancer in patients with long-term use of topical corticosteroids (TCS).

Introduction: Topical corticosteroids are one of the most commonly prescribed medicines in dermatology and the mainstay of the treatment of atopic dermatitis and other skin conditions such as psoriasis. They are often required for months or years to control the disease and ultimately restore patients' quality of life. Read More

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http://dx.doi.org/10.11124/JBISRIR-2017-003393DOI Listing
June 2018
10 Reads

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

JAAD Case Rep 2018 Mar 2;4(2):196-199. Epub 2018 Feb 2.

Keck School of Medicine at the University of Southern California, Los Angeles, California.

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http://dx.doi.org/10.1016/j.jdcr.2017.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993552PMC

Focal dermal hypoplasia: A novel finding in disguise.

J Oral Biol Craniofac Res 2018 May-Aug;8(2):143-146. Epub 2018 Feb 1.

Department of Oral and Maxillofacial Surgery, Luton and Dunstable University Hospital, Lewsey Road, Luton, LU4 0DZ, United Kingdom.

Focal Dermal Hypoplasia (FDH) or Goltz-Gorlin syndrome is an unusual X-linked dominant syndrome characterised by anomalies of both ectodermal and mesodermal structures. We present a case report on the management of a 58 year old Caucasian male with Focal Dermal Hypoplasia. This report describes an additional clinical manifestation of an intraosseous mandibular lipoma, which has not been previously described in cases of FDH. Read More

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http://dx.doi.org/10.1016/j.jobcr.2018.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993465PMC
February 2018
2 Reads

Rhabdomyosarcoma and rhabdomyoma associated with nevoid basal cell carcinoma syndrome: Local treatment strategy.

Pediatr Dermatol 2018 Jul 25;35(4):e245-e247. Epub 2018 May 25.

Departments of Maxillofacial and Plastic Surgery, Necker Children Hospital, Assistance Publique-Hôpitaux de Paris, University Paris 5, Paris, France.

This article presents the case of a child presenting with a rhabdomyosarcoma associated with a fetal rhabdomyoma in the setting of nevoid basal cell carcinoma syndrome. Oncologic strategy is discussed. Read More

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http://dx.doi.org/10.1111/pde.13536DOI Listing
July 2018
2 Reads
1.520 Impact Factor

Tatami Mats: A Source of Pitted Keratolysis in a Martial Arts Athlete?

Acta Dermatovenerol Croat 2018 Apr;26(1):68-70

Daniela Ledić Drvar, MD, PhD, University Hospital Centre Zagreb, Department of Dermatology and Venereology, School of Medicine University of Zagreb, Šalata 4, 10000 Zagreb, Croatia;

Dear Editor, Pitted keratolysis (PK), also known as keratosis plantaris sulcatum, is a non-inflammatory, bacterial, superficial cutaneous infection, characterized by many discrete superficial crateriform ''pits'' and erosions in the thickly keratinized skin of the weight-bearing regions of the soles of the feet (1). The disease often goes unnoticed by the patient, but when it is noticed it is because of the unbearable malodor and hyperhidrosis of the feet, which are socially unacceptable and cause great anxiety to many of the patients. PK occurs worldwide, with the incidence rates varying based on the environment and occupation. Read More

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April 2018
24 Reads

A rare association of Gorlin-Goltz syndrome.

Neurol India 2018 May-Jun;66(3):847-849

Professor, Department of Radiodiagnosis, Sree Balaji Medical College and Hospital, Chennai, Tamil Nadu, India.

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http://dx.doi.org/10.4103/0028-3886.232340DOI Listing
May 2018
1 Read
1.080 Impact Factor

Medulloblastoma in a toddler with Gorlin syndrome.

Proc (Bayl Univ Med Cent) 2018 Apr 12;31(2):216-218. Epub 2018 Mar 12.

School of Medicine, Texas Tech University Health Science Center, Lubbock, Texas.

Gorlin syndrome (GS) is a rare hereditary multisystem disorder caused by mutations in , or . It is characterized by multiple anomalies and an increased risk of developing various tumors. Basal cell carcinoma is most common, and medulloblastoma (MB) is especially frequent in patients with mutations. Read More

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http://dx.doi.org/10.1080/08998280.2018.1435111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5914436PMC
April 2018
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Illuminating Alternative Strategies to Treat Targeted Chemotherapy-Resistant Sporadic Basal Cell Carcinoma.

J Invest Dermatol 2018 May;138(5):1017-1019

Department of Developmental and Cell Biology, University of California, Irvine, California, USA; Department of Dermatology, University of California, Irvine, California, USA; Chao Family Comprehensive Cancer Center, University of California, Irvine, California, USA. Electronic address:

Sporadic and basal cell nevus syndrome basal cell carcinomas show differential response rates to Smoothened inhibitors. Chiang et al. demonstrate notable decreases in UV-induced mutagenesis, total mutation load, genomic instability, and drug-resistant mutations among basal cell nevus syndrome basal cell carcinomas using whole exome sequencing, which may explain the differences in drug response rates. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X173316
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http://dx.doi.org/10.1016/j.jid.2017.11.013DOI Listing
May 2018
6 Reads

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

J Craniofac Surg 2018 Sep;29(6):1588-1590

Dental School, State University of Western Paraná (UNIOESTE), Cascavel, Brazil.

Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as Gorlin syndrome, is a rare autosomal dominant disorder, with no gender predilection. Individuals with NBCCS are commonly diagnosed between 17 and 35 years old and can present multiple basal cell carcinomas scattered throughout the body, presence of recurrent and early-onset odontogenic keratocysts (OKCs) and skeletal abnormalities. This article describes a case of a 13-year-old white boy who referred complaining of facial asymmetry. Read More

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http://dx.doi.org/10.1097/SCS.0000000000004564DOI Listing
September 2018
9 Reads

Basaloid Follicular Hamartoma: A Case Report and a Novel Cosmetic Treatment.

J Clin Aesthet Dermatol 2018 Mar 1;11(3):39-41. Epub 2018 Mar 1.

Dr. Segars is with NSU-COM/Largo Medical Center Dermatology Residency in Largo, Florida.

Basaloid follicular hamartoma (BFH) is a rare, benign neoplasm of the hair follicle, characterized by multiple brown papules involving the face, scalp, and trunk. It is described by multiple clinical forms, and can present as localized or generalized. Diagnosis is made histologically via biopsy, which is important in order to distinguish BFH from basal cell carcinoma (BCC) or other malignant epithelial neoplasms. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868784PMC
March 2018
5 Reads