1,883 results match your criteria Nevoid Basal Cell Carcinoma Syndrome


A novel splicing mutation of PTCH1 in a Chinese family with nevoid basal cell carcinoma syndrome.

Med Mol Morphol 2019 Apr 17. Epub 2019 Apr 17.

Department of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, 410011, Hunan, China.

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the development of multiple jaw keratocysts and basal cell carcinomas (BCC) and accompanied by diverse phenotypes. The establishment of diagnosis lies on the identification of a heterozygous germline pathogenic variant in the patched homolog 1 gene (PTCH1). PTCH1 has alternative splicing and selective initial coding exon, leading to three types of encoding proteins (PTCHL, PTCHM and PTCHS). Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00795-019-00222-9
Publisher Site
http://dx.doi.org/10.1007/s00795-019-00222-9DOI Listing
April 2019
2 Reads

An enigma of Gorlin-Goltz syndrome: Two cases reported in mother and daughter.

J Oral Maxillofac Pathol 2019 Feb;23(Suppl 1):115-121

Department of Oral and Maxillofacial Surgery, Haldia Institute of Dental Sciences and Research, West Bengal University of Health Sciences, Haldia, West Bengal, India.

Gorlin-Goltz syndrome (GGS) also known as the nevoid basal cell carcinoma syndrome or the nevus-Bifid rib syndrome is an inherited autosomal dominant syndrome. It is caused by genetic alteration produced by a mutation in the "patched" tumor suppressor gene. This rare syndrome is characterized by basal cell carcinoma of skin, multiple odontogenic keratocyst and bifid ribs along with other features such as hypertelorism, sex organ abnormalities, palmar and/or plantar pits and calcification of falx cerebri. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/jomfp.JOMFP_160_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421933PMC
February 2019
1 Read

A novel mutation in basal cell nevus syndrome with rare craniofacial features.

Hum Genome Var 2019 2;6:16. Epub 2019 Apr 2.

1Department of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of Dentistry, Suita, Japan.

Basal cell nevus syndrome (BCNS) is a rare, multisystem, autosomal dominant disorder that is characterized by various phenotypes, including multiple basal cell carcinomas of the skin, odontogenic keratocysts of the jaws, and occasionally cleft lip and/or palate. In this report, we describe a 6-year-old Japanese girl with a novel heterozygous nonsense mutation in who exhibited rare craniofacial phenotypes, such as oligodontia and a short-tooth root. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41439-019-0047-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445144PMC
April 2019
1 Read

Sunscreen May Prevent the Development of Basal Cell Carcinoma in Individuals with Basal Cell Carcinoma Nevus Syndrome (BCCNS): A Retrospective Survey Study.

J Am Acad Dermatol 2019 Mar 27. Epub 2019 Mar 27.

University of Connecticut Health Center Dermatology Department. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2019.03.057DOI Listing
March 2019
2 Reads

Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1.

BMJ Case Rep 2019 Mar 8;12(3). Epub 2019 Mar 8.

Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.

A man in his early 60s with myotonic dystrophy type 1 (DM1) and an extensive history of non-melanoma skin cancer presented with multiple pearly, erythematous papules on his face, head, trunk and extremities, clinically consistent with basal cell carcinoma (BCC). Due to the numerous BCC and history of multiple and early-onset BCC, examination was concerning for a hereditary BCC syndrome. Subsequent histopathology confirmed BCC. Read More

View Article

Download full-text PDF

Source
http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22723
Publisher Site
http://dx.doi.org/10.1136/bcr-2018-227233DOI Listing
March 2019
8 Reads

What's New in Genetic Skin Diseases.

Dermatol Clin 2019 Apr;37(2):229-239

Department of Dermatology, University of Alabama at Birmingham, 1940 Elmer J. Bissell Road, Birmingham, AL 35243, USA. Electronic address:

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.det.2018.11.004DOI Listing
April 2019
1 Read

What is the Prevalence of Undiagnosed Nevoid Basal Cell Carcinoma Syndrome in Children With an Odontogenic Keratocyst?

J Oral Maxillofac Surg 2019 Feb 5. Epub 2019 Feb 5.

Associate Professor, Harvard School of Dental Medicine, Boston Oral Surgeon-in-Chief, Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA. Electronic address:

Purpose: Odontogenic keratocysts (OKCs) can occur in isolation or as part of nevoid basal cell carcinoma syndrome (NBCCS). Patients with NBCCS are younger at OKC diagnosis than those with nonsyndromic OKC (NS-OKC). The purpose of this study was to determine the prevalence of undiagnosed NBCCS in children who present with an OKC and to assess differences in demographic and presenting features between children with NBCCS and those with NS-OKC. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.joms.2019.01.045DOI Listing
February 2019
1 Read

A healthy individual with a homozygous frameshift variant: Are variants of associated with nevoid basal cell carcinoma syndrome?

Hum Genome Var 2019 22;6:10. Epub 2019 Feb 22.

Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.

Variants in have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG, p. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41439-019-0041-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384928PMC
February 2019
1 Read

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/cells8020144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406887PMC
February 2019
1 Read

[Histopathological study of basaloid follicular hamartoma].

Ann Dermatol Venereol 2019 Mar 26;146(3):181-191. Epub 2019 Jan 26.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.annder.2018.12.007DOI Listing
March 2019
2 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

View Article

Download full-text PDF

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

Tetrad presentation of non-syndromic odontogenic keratocyst: An uphill diagnostic and therapeutic challenge.

Dent Med Probl 2018 Oct-Dec;55(4):447-451

Department of Oral Pathology and Microbiology, the A.B. Shetty Memorial Institute of Dental Sciences, NITTE (Deemed to be University), Deralakatte, India.

Odontogenic keratocyst (OKC), in the last decade sceptically referred to as keratocystic odontogenic tumor (KCOT), is known for its subclinical extensive growth potential and significant rate of recurrences. Odontogenic keratocyst, being the third most common cystic lesion (10-20%) of the maxillofacial region, is often recognized as a sporadic lesion and is well-documented in the literature. Multiple presentation of these cysts over a lifetime is relatively uncommon and is usually seen in conjunction with nevoid basal cell carcinoma syndrome (NBCC), orofacial digital syndrome, Noonan syndrome, Ehlers-Danlos syndrome, Simpson-Golabi-Behmel syndrome, or other syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17219/dmp/96272DOI Listing
January 2019

Effect of the sonic hedgehog inhibitor GDC-0449 on an in vitro isogenic cellular model simulating odontogenic keratocysts.

Int J Oral Sci 2019 Jan 5;11(1). Epub 2019 Jan 5.

Department of Oral Pathology, Peking University School and Hospital of Stomatology, 22 South Zhongguancun Avenue, Haidian District, Beijing, China.

Odontogenic keratocysts (OKCs) are common cystic lesions of odontogenic epithelial origin that can occur sporadically or in association with naevoid basal cell carcinoma syndrome (NBCCS). OKCs are locally aggressive, cause marked destruction of the jaw bones and have a propensity to recur. PTCH1 mutations (at ∼80%) are frequently detected in the epithelia of both NBCCS-related and sporadic OKCs, suggesting that PTCH1 inactivation might constitutively activate sonic hedgehog (SHH) signalling and play a major role in disease pathogenesis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41368-018-0034-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320367PMC
January 2019
4 Reads
2.029 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

View Article

Download full-text PDF

Source
September 2018
4 Reads

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

View Article

Download full-text PDF

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

Co-Inheritance of Autosomal Dominant Polycystic Kidney Disease and Naevoid Basal Cell Carcinoma Syndrome: Effects on Renal Progression.

Nephron 2018 26;140(4):282-288. Epub 2018 Oct 26.

Laboratorio de Nefrología Experimental y Bioquímica Molecular, Instituto de Investigaciones Médicas Alfredo Lanari, Universidad de Buenos Aires, Buenos Aires,

The calcium signalling and hedgehog (HH) signalling pathways operate in the primary cilium. Abnormalities in these pathways cause autosomal dominant polycystic kidney disease (ADPKD) and naevoid basal cell carcinoma syndrome (NBCCS) respectively. Several reports have proposed that hyperactivation of the HH pathway in animal models of polycystic kidney disease affects normal renal development and renal cyst phenotype. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/490771
Publisher Site
http://dx.doi.org/10.1159/000490771DOI Listing
October 2018
16 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

View Article

Download full-text PDF

Source
https://www.hindawi.com/journals/crid/2018/7594840/
Publisher Site
http://dx.doi.org/10.1155/2018/7594840DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169230PMC
September 2018
6 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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S07338635183107
Publisher Site
http://dx.doi.org/10.1016/j.det.2018.05.007DOI Listing
October 2018
26 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

View Article

Download full-text PDF

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

Emerging concepts and latest advances regarding the etiopathogenesis, morphology and immunophenotype of basal cell carcinoma.

Rom J Morphol Embryol 2018 ;59(2):427-433

Department of Pathology, Department of Plastic Surgery, University Emergency Hospital, Bucharest, Romania;

Basal cell carcinoma (BCC) represents the most common skin malignancy, which has been linked over time to multifactorial causes. It usually occurs on sun-exposed areas in people with fair skin and with predilection for men. BCC usually affects elderly patients and has an extremely wide range of histological subtypes, which can present clinically under different variants, some with really challenging differentials. Read More

View Article

Download full-text PDF

Source
December 2018
2 Reads

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

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/pde.13614
Publisher Site
http://dx.doi.org/10.1111/pde.13614DOI Listing
November 2018
4 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000489056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6103330PMC
July 2018
4 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/ejd.2018.3338DOI Listing
October 2018
2 Reads

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.

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

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

Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.

Actas Dermosifiliogr 2018 Oct 6;109(8):677-686. Epub 2018 Jul 6.

Servicio de Dermatología, Hospital de Manacor, Mallorca, Islas Baleares, España.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2018.05.005DOI Listing
October 2018
4 Reads

Retrospective clinical study of multiple keratocystic odontogenic tumors in non-syndromic patients.

J Korean Assoc Oral Maxillofac Surg 2018 Jun 26;44(3):107-111. Epub 2018 Jun 26.

Institute of Translational Dental Sciences, Pusan National University, Yangsan, Korea.

Objectives: A keratocystic odontogenic tumor (KOT) is a type of odontogenic tumor that mainly occurs in the posterior mandible. Most KOTs appear as solitary lesions; however, they sometimes occur as multiple cysts. This study analyzed the clinical features of multiple KOTs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5125/jkaoms.2018.44.3.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6024063PMC
June 2018
3 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-018-0485-0DOI Listing
September 2018
11 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

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

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

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jobcr.2018.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993465PMC
February 2018
3 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13536DOI Listing
July 2018
4 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

View Article

Download full-text PDF

Source
April 2018
27 Reads

Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton.

Insights Imaging 2018 Aug 15;9(4):571-589. Epub 2018 May 15.

Division of Radiology, Department of Imaging and Medical Informatics, Geneva University Hospitals, Rue Gabrielle-Perret-Gentil 4, 1211, Geneva 14, Switzerland.

Although rare, masses and mass-like lesions of developmental and genetic origin may affect the paediatric craniofacial skeleton. They represent a major challenge in clinical practice because they can lead to functional impairment, facial deformation and disfigurement. The most common lesions include fibrous dysplasia, dermoid cysts, vascular malformations and plexiform neurofibromas. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13244-018-0623-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108962PMC
August 2018
6 Reads

Illuminating Alternative Strategies to Treat Targeted Chemotherapy-Resistant Sporadic Basal Cell Carcinoma.

J Invest Dermatol 2018 05;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

View Article

Download full-text PDF

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

Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.

Neurosurgery 2018 Dec;83(6):1107-1118

Vivian L. Smith Department of Neurosurgery, University of Texas Health Science Center at Houston, Texas.

Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/neuros/nyy121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235681PMC
December 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000004564DOI Listing
September 2018
10 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

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868784PMC
March 2018
6 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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014442PMC
May 2018
10 Reads

Familial papular epidermal nevus with "skyline" basal cell layer.

Pediatr Dermatol 2018 May 25;35(3):e191-e192. Epub 2018 Mar 25.

Department of Dermatology, Complejo Asistencial Universitario de Salamanca, Salamanca, Spain.

Papular epidermal nevus with "skyline" basal cell layer is a variant of keratinocytic nevus that usually occurs sporadically but may affect different family members. We report on the fourth family with papular epidermal nevus with "skyline" basal cell layer affecting a 3-month-old girl and her father. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13449DOI Listing
May 2018
9 Reads

Immunohistochemical evaluation of Sonic Hedgehog signaling pathway proteins (Shh, Ptch1, Ptch2, Smo, Gli1, Gli2, and Gli3) in sporadic and syndromic odontogenic keratocysts.

Clin Oral Investig 2019 Jan 21;23(1):153-159. Epub 2018 Mar 21.

Department of Stomatology, School of Dentistry, University of Sao Paulo, Av. Prof. Lineu Prestes 2227 (Butantã), São Paulo, 03178-200, Brazil.

Aims: The aim of this study was to compare the clinical and demographic features of 62 patients presenting sporadic odontogenic keratocysts (OKCs) or OKCs associated with nevoid basal cell carcinoma syndrome (NBCCS). In conjunction with this, we also evaluated the immunohistochemical expression of Shh, Ptch1, Ptch2, Smo, Gli1, Gli2 and Gli3 proteins in 86 OKCs. By doing this, we add to the understanding of the biology of this type of lesion, providing tools that will help facilitate the early diagnosis of NBCCS in those patients where the first manifestation is that of OKCs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00784-018-2421-2DOI Listing
January 2019
8 Reads

SOX9 Transcriptionally Regulates mTOR-Induced Proliferation of Basal Cell Carcinomas.

J Invest Dermatol 2018 08 14;138(8):1716-1725. Epub 2018 Mar 14.

Department of Dermatology, Columbia University Medical Center, New York, New York, USA.

Currently available smoothened targeted therapies in patients with basal cell nevus syndrome are associated with substantial tumor recurrence and clinical resistance. Strategies bypassing smoothened and/or identifying additional downstream components of the Hedgehog pathway could provide novel antitumor targets with a better therapeutic index. Sry-related high mobility group box 9 (SOX9) is a Hedgehog/glioma-associated oncogene homolog-regulated transcription factor known to be overexpressed in basal cell carcinomas (BCCs). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2018.01.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056318PMC
August 2018
7 Reads

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

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/487747
Publisher Site
http://dx.doi.org/10.1159/000487747DOI Listing
May 2018
10 Reads

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SCS.0000000000004438DOI Listing
September 2018
9 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

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5833102PMC
February 2018
14 Reads