2,176 results match your criteria Gorlin Syndrome


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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December 2018
2 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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November 2018

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

Value of ejection fraction/velocity ratio in the prognostic stratification of patients with asymptomatic aortic valve stenosis.

Echocardiography 2018 Oct 30. Epub 2018 Oct 30.

Emergency Institute of Cardiovascular Diseases Prof. C.C. Iliescu, Bucharest, Romania.

Background: The ejection fraction/velocity ratio (EFVR) is a simple function-corrected index of aortic stenosis severity with a good correlation with aortic valve area measured using the Gorlin formula at cardiac catheterization. It is calculated by dividing left ventricular ejection fraction (LVEF) to 4 × (peak jet velocity) .

Objective: Our aim was to evaluate the value of EFVR in predicting adverse events in patients with asymptomatic aortic stenosis. Read More

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October 2018
5 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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October 2018
6 Reads

Persistent hiccups following cervical epidural steroid injection with betamethasone.

Int Med Case Rep J 2018 11;11:263-264. Epub 2018 Oct 11.

Department of Anesthesiology, Mayo Clinic Hospital, Phoenix, AZ, USA,

Singultus (hiccups lasting longer than 48 hours) is a described complication following epidural steroid injections, sacroiliac joint injections, and facet joint injections. The underlying etiology is not completely understood, but it is a condition that can be distressing to patients. Our case presentation involves a 62-year-old male presenting for cervical epidural steroid injection. Read More

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October 2018
1 Read

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

Am J Med Genet A 2018 Oct 17. 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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October 2018
13 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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September 2018
4 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 2018 Oct 3. Epub 2018 Oct 3.

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

Activation of the Hedgehog (Hh) pathway is causative of virtually all sporadic and Gorlin syndrome-related basal cell carcinomas (BCC), with loss of function of Patched1 (Ptc1) being the most common genomic lesion. Sporadic BCCs also overexpress desmoglein-2 (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) 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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October 2018
15 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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October 2018

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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January 2018
2 Reads

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

Int J Radiat Oncol Biol Phys 2018 Oct 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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October 2018
2 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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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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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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November 2018
2 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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July 2018
2 Reads

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

Eur J Dermatol 2018 Aug 21. Epub 2018 Aug 21.

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

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August 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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August 2018
1 Read

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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October 2018

Nurturing Our Better Nature: A Proposal for Cognitive Integrity as a Foundation for Autonomous Living.

Behav Genet 2018 Aug 12. Epub 2018 Aug 12.

Department of Philosophy, University of Birmingham, Birmingham, UK.

As we account for the genetic and environmental influences on morally-relevant character traits like intellectual honesty, industriousness, and self-control, do we risk becoming ever less accountable to ourselves? Behavioral genetic research suggests that about half the variance in such character traits is likely attributable to heredity, and a small fraction to the shared family environment. The remaining 40-60% is explained by neither genes nor family upbringing. This raises the question: how active a role can individuals play in shaping their own character? What, if anything, can and should one do to take responsibility for the kind of person one becomes? This paper sketches a novel theoretical proposal for addressing these questions, by drawing on several previously disparate lines of research within behavior genetics, philosophy, and experimental psychology. Read More

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August 2018
8 Reads

Aortic Valve Area-Technical Communication: Continuity and Gorlin Equations Revisited.

J Cardiothorac Vasc Anesth 2018 Dec 31;32(6):2599-2606. Epub 2018 May 31.

Beth Israel Deaconess Medical Center, Boston, MA.

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December 2018
3 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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July 2018
2 Reads

Computational method for discovery of biomarker signatures from large, complex data sets.

Comput Biol Chem 2018 Oct 10;76:161-168. Epub 2018 Jul 10.

IFXworks LLC, 2915 Columbia Pike, Arlingtion, VA, 22204, United States.

We present an efficient method for identifying of reliable biomarker panels from large multivariate data sets that typically result from experiments that monitor changes in RNA, small molecule, or protein abundance. Our computational methodology is developed and validated on the toxicogenomics database Drug Matrix that in its largest category contains 1656 recognition targets, characterized by the toxicant, dose and time (or duration) of the exposure. We were able to recognize both individual experimental conditions (compound, dose and time combinations) and the cases where the values for dose and time variables fall within the intervals in the training data, but do not match the training data exactly. Read More

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October 2018
1.120 Impact Factor

Remembering or knowing how we felt: Depression and anxiety symptoms predict retrieval processes during emotional self-report.

Emotion 2018 Jul 12. Epub 2018 Jul 12.

Department of Psychology.

Researchers and clinicians routinely rely on patients' retrospective emotional self-reports to guide diagnosis and treatment, despite evidence of impaired autobiographical memory and retrieval of emotional information in depression and anxiety. To clarify the nature and specificity of these impairments, we conducted two large online data collections (Study 1, = 1,983; Study 2, = 900) examining whether depression and/or anxiety symptoms would uniquely predict the use of self-reported episodic (i.e. Read More

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July 2018
5 Reads

Ameloblastomatous Calcifying Odontogenic Cyst: A Rare Entity.

Ann Maxillofac Surg 2018 Jan-Jun;8(1):108-115

Department of Oral and Maxillofacial Surgery, Faculty of Dental Science, Dharmsinh Desai University, Nadiad, Gujarat, India.

Introduction: Ameloblastomatous calcifying odontogenic cyst (COC) is an extremely rare histopathologic variant of COC, an odontogenic cyst of the jaws. It needs to be differentiated from closely associated variant ameloblastoma ex COC that is entitled to a more aggressive form of surgical management.

Aim: The aim of this paper is to present a case of ameloblastomatous COC of the right mandibular angle region with review of literature describing this rare entity. Read More

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July 2018
1 Read

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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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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June 2018
11 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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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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October 2018
4 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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June 2018
8 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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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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February 2018
1 Read

A multicentre study of 268 cases of calcifying odontogenic cysts and a literature review.

Oral Dis 2018 Oct 29;24(7):1282-1293. Epub 2018 Jun 29.

Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.

Objectives: To investigate the frequency of calcifying odontogenic cysts (COCs) that have been submitted for microscopic examination from representative geographic regions of Brazil and to compare it with literature data.

Materials And Methods: A retrospective study was conducted on biopsies obtained from 1953 to 2016 at 10 Brazilian oral and maxillofacial pathology centres. A total of 198,350 biopsy specimens were analysed. Read More

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October 2018
6 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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July 2018
2 Reads
1.520 Impact Factor

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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May 2018
1.080 Impact Factor

The impact of active mentorship: results from a survey of faculty in the Department of Medicine at Massachusetts General Hospital.

BMC Med Educ 2018 May 11;18(1):108. Epub 2018 May 11.

Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.

Background: To assess mentorship experiences among the faculty of a large academic department of medicine and to examine how those experiences relate to academic advancement and job satisfaction.

Methods: Among faculty members in the Massachusetts General Hospital Department of Medicine, we assessed personal and professional characteristics as well as job satisfaction and examined their relationship with two mentorship dimensions: (1) currently have a mentor and (2) role as a mentor. We also developed a mentorship quality score and examined the relationship of each mentorship variable to academic advancement and job satisfaction. Read More

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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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April 2018
1 Read

Rescuing cognitive and emotional regulatory skills to aid smoking prevention in at-risk youth: A randomized trial.

Contemp Clin Trials 2018 Jul 12;70:1-7. Epub 2018 Apr 12.

Department of Psychology, Claremont McKenna College, United States.

Adolescence is a vulnerable period for smoking initiation, with disadvantaged teens particularly at risk. In addition, emotional and cognitive dysregulation is associated with an increased risk of smoking and makes it particularly challenging to benefit from standard substance use prevention interventions. The goal of the current study is to investigate the extent to which interventions designed to improve cognitive (working memory) and emotional (distress tolerance) regulatory processes enhance the effectiveness of a standard smoking prevention informational intervention. Read More

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July 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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September 2018
6 Reads

Pressure gradient vs. flow relationships to characterize the physiology of a severely stenotic aortic valve before and after transcatheter valve implantation.

Eur Heart J 2018 Jul;39(28):2646-2655

Weatherhead PET Center, Division of Cardiology, Department of Medicine, McGovern Medical School at UTHealth and Memorial Hermann Hospital, Houston, TX, USA.

Aims: Echocardiography and tomographic imaging have documented dynamic changes in aortic stenosis (AS) geometry and severity during both the cardiac cycle and stress-induced increases in cardiac output. However, corresponding pressure gradient vs. flow relationships have not been described. Read More

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July 2018
7 Reads

Effective anti-programmed death-1 therapy in a SUFU-mutated patient with Gorlin-Goltz syndrome.

Br J Dermatol 2018 Sep 26;179(3):747-749. Epub 2018 Jun 26.

Department of Dermatology, Universitätsklinikum Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg (FAU), 91054, Erlangen, Germany.

We present the case of a 77-year-old male patient with more than 50 basal cell carcinomas on the head and upper trunk. The patient did not respond to several lines of treatment, including surgery, imiquimod, retinoids, itraconazole and therapy with the hedgehog inhibitor vismodegib. The patient responded well to off-label therapy with the anti-programmed death-1 antibody pembrolizumab after four infusions. Read More

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September 2018
7 Reads

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

Mol Genet Genomic Med 2018 05 25;6(3):409-415. Epub 2018 Mar 25.

Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

Background: Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), maxillary keratocysts, and cerebral calcifications. BCNS most commonly is caused by a germline mutation in the patched-1 (PTCH1) gene. PTCH1 mutations are also described in patients with holoprosencephaly. Read More

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May 2018
1 Read

A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.

Cytogenet Genome Res 2018 16;154(2):57-61. Epub 2018 Mar 16.

Department of Medical Genetics, Faculty of Medicine, Ankara University, Ankara, Turkey.

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Read More

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May 2018
8 Reads

A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report.

Cytogenet Genome Res 2018 10;154(3):119-121. Epub 2018 Mar 10.

Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11. Read More

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Delayed Diagnosis of Gorlin-Goltz Syndrome: The Importance of the Multidisciplinary Approach.

J Craniofac Surg 2018 Sep;29(6):e530-e531

State University of Maringá, Maringá, Brazil.

Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant inherited disorder with high penetrance and variable expressivity. The classic triad originally described by Gorlin and Goltz in 1960 is composed of multiple nevoid basal cell carcinomas (NBCCs), odontogenic keratocysts (OKCs) in the jaws and bifid ribs. in 1977, this triad was modified by Rayner et al, and to GGS diagnosis, the OKCs had to appear in combination with calcification of the cerebellar falx or palmar and plantar pits. Read More

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September 2018
7 Reads

Potential hot spot for de novo mutations in PTCH1 gene in Gorlin syndrome patients: a case report of twins from Croatia.

Croat Med J 2018 Feb;59(1):20-24

Vesna Musani, Division of Molecular Medicine, Ruđer Bošković Institute, Bijenička 54, 10000 Zagreb, Croatia,

We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity. One brother also had benign testicular mesothelioma. Read More

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February 2018
10 Reads

Brain cancer genomics and epigenomics.

Handb Clin Neurol 2018 ;148:785-797

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States; Broad Institute of Harvard and MIT, Cambridge, MA, United States. Electronic address:

Classically, brain cancers have been graded and diagnosed based on histology and risk stratified by clinical criteria. Recent advances in genomics and epigenomics have ushered in an era of defining cancers based on molecular criteria. These advances have increased our precision of identifying oncogenic driving events and, most importantly, increased our precision at predicting clinical outcome. Read More

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August 2018
4 Reads

Ceftriaxone-induced drug reaction mimicking acute splenic sequestration crisis in a child with hemoglobin SC disease.

Transfusion 2018 04 22;58(4):879-883. Epub 2018 Feb 22.

Cancer and Blood Disorders, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota.

Background: Acute splenic sequestration crisis is a complication of sickle cell disease (SCD) occurring when intrasplenic red blood cell (RBC) sickling prevents blood from leaving the spleen, causing acute splenic enlargement. Although typically seen in young children, it has been reported in older children with hemoglobin (Hb)SC disease, eventually resulting in functional asplenia. Ceftriaxone is a frequently used antibiotic of choice for children with SCD, because of its efficacy against invasive pneumococcal disease. Read More

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April 2018
4 Reads
3.230 Impact Factor

Blue light versus red light for photodynamic therapy of basal cell carcinoma in patients with Gorlin syndrome: A bilaterally controlled comparison study.

Photodiagnosis Photodyn Ther 2018 Jun 19;22:7-13. Epub 2018 Feb 19.

Department of Quantitative Health Sciences, Cleveland Clinic, Cleveland, OH 44195, United States.

Background: Photodynamic therapy (PDT) is a non-scarring alternative for treating basal cell carcinoma (BCC) in patients with Basal Cell Nevus Syndrome (BCNS), also known as Gorlin syndrome. In Europe, red light (635 nm) is the predominant source for PDT, whereas in the United States blue light (400 nm) is more widely available. The objective of this study was to conduct a head-to-head comparison of blue light and red light PDT in the same BCNS patients. Read More

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June 2018
8 Reads

Vismodegib Use in Clinical Practice: Analysis of a United States Medical Claims Database.

J Drugs Dermatol 2018 Feb;17(2):143-148

Background: Information is limited on the use of vismodegib for treatment of advanced basal cell carcinoma beyond the setting of clinical trials.

Objective: To investigate the treatment patterns and characteristics of patients treated with vismodegib in clinical practice.

Methods: A longitudinal, retrospective cohort study was undertaken using data from a US commercial insurance claims (Truven Health Analytics MarketScan) database. Read More

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February 2018
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