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    1776 results match your criteria Nevoid Basal Cell Carcinoma Syndrome

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    Basal cell carcinoma pathogenesis and therapy involving hedgehog signaling and beyond.
    Mol Carcinog 2017 Jun 2. Epub 2017 Jun 2.
    Department of Dermatology and Skin Diseases Research Center, University of Alabama at Birmingham, Birmingham, AL, USA.
    Basal cell carcinoma (BCC) of the skin is driven by aberrant hedgehog signaling. Thus blocking this signaling pathway by small molecules such as vismodegib inhibits tumor growth. Primary cilium in the epidermal cells plays an integral role in the processing of hedgehog signaling related proteins. Read More

    Ameloblastic Fibro-Odontoma of the Maxilla in a Pierre-Robin Sequence Patient.
    Fetal Pediatr Pathol 2017 May 30:1-7. Epub 2017 May 30.
    e DDS, MD, MA -- Section Chief of Oral and Maxillofacial Surgery, Department of Oral and Maxillofacial Surgery , University of Pennsylvania Presbyterian Medical Center, Philadelphia Veterans Affairs Medical Center.
    Introduction: Pierre Robin sequence (PRS) is a rare disorder classically observed as a triad of features including micrognathia, glossoptosis, and upper airway obstruction. It is associated with a syndrome in about 60% of cases. While odontogenic tumors are common findings in patients with familial adenomatous polyposis and nevoid basal cell carcinoma syndromes, PRS has not been found to be consistently associated with any tumors of the jaw. Read More

    Genetic diseases associated with an increased risk of skin cancer development in childhood.
    Curr Opin Pediatr 2017 May 18. Epub 2017 May 18.
    aStanford University School of Medicine bDepartment of Dermatology cDepartment of Dermatology and Pediatrics dDivision of Pediatric Dermatology, Stanford University School of Medicine, USA.
    Purpose Of Review: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. Read More

    Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings.
    J Pediatr Genet 2017 Jun 14;6(2):103-106. Epub 2016 Sep 14.
    Departamento de Genética, Instituto de Ciências Biológicas, Universidade Federal de Goias, Goiania, Goiás, Brazil.
    In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p. Read More

    Analysis of GLUT-1, GLUT-3, and angiogenic index in syndromic and non-syndromic keratocystic odontogenic tumors.
    Braz Oral Res 2017 Apr 27;31:e34. Epub 2017 Apr 27.
    Universidade Estadual da Paraíba - UEPB, Dental School, Department of Dentistry, Campina Grande, PB, Brazil.
    The aim of this study was to evaluate the immunoexpression of glucose transporters 1 (GLUT-1) and 3 (GLUT-3) in keratocystic odontogenic tumors associated with Gorlin syndrome (SKOTs) and non-syndromic keratocystic odontogenic tumors (NSKOTs), and to establish correlations with the angiogenic index. Seventeen primary NSKOTs, seven recurrent NSKOTs, and 17 SKOTs were selected for the study. The percentage of immunopositive cells for GLUT-1 and GLUT-3 in the epithelial component of the tumors was assessed. Read More

    Clinical Finding and Management of 12 Orofacial Clefts Cases With Nevoid Basal Cell Carcinoma Syndrome.
    Cleft Palate Craniofac J 2017 May;54(3):338-342
    Objective  To study the phenotype and overview the clinical management on Cleft Lip and/or Palate (CL/P) with Nevoid Basal Cell Carcinoma Syndrome (NBCCS) patients in Peking University School and Hospital of Stomatology. Design  Case series study. Main Outcome Measures  To describe the clinical phenotype of 12 CL/P with NBCCS patients who fulfilled the diagnostic criteria as well as to explore clinical management. Read More

    Sporadic versus syndromic keratocysts - Can we predict treatment outcome? A review of 102 cysts.
    Oral Dis 2017 Apr 27. Epub 2017 Apr 27.
    Department of Oral and Maxillofacial Surgery, the Clinical Research Institute and the Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
    Objectives: Keratocystic odontogenic tumor (KCOT) demonstrates variable growth mechanisms and biologic behavior, partly due to origin and histology. We looked for the most contributing factors in predicting outcome of treatment.

    Subjects And Methods: We retrospectively reviewed 118 medical files of patients diagnosed with KCOT (by tissue biopsy before surgical treatment) with/without nevoid basal cell carcinoma syndrome (NBCCS) from 1995 to 2015. Read More

    What's new with common genetic skin disorders?
    Minerva Pediatr 2017 Aug 20;69(4):288-297. Epub 2017 Apr 20.
    Department of Dermatology, Rochester, MN, USA -
    Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated. Read More

    The Molecular Revolution in Cutaneous Biology: Emerging Landscape in Genomic Dermatology: New Mechanistic Ideas, Gene Editing, and Therapeutic Breakthroughs.
    J Invest Dermatol 2017 May;137(5):e123-e129
    INSERM UMR 1163, Paris, France; Imagine Institute, Paris, France; University Paris Descartes Sorbonne Cité, Paris, France; Department of Genetics, Necker Hospital for Sick Children, Paris, France. Electronic address:
    Stunning technological advances in genomics have led to spectacular breakthroughs in the understanding of the underlying defects, biological pathways and therapeutic targets of skin diseases leading to new therapeutic interventions. Next-generation sequencing has revolutionized the identification of disease-causing genes and has a profound impact in deciphering gene and protein signatures in rare and frequent skin diseases. Gene addition strategies have shown efficacy in junctional EB and in recessive dystrophic EB (RDEB). Read More

    Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome.
    J Med Genet 2017 Mar 31. Epub 2017 Mar 31.
    Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.
    Background: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterised by developmental defects and tumorigenesis, such as medulloblastomas and basal cell carcinomas, caused by mutations of the patched-1 (PTCH1) gene. In this article, we seek to demonstrate a mosaicism containing double mutations in PTCH1 in an individual with NBCCS.

    Methods And Results: A de novo germline mutation of PTCH1 (c. Read More

    Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.
    J Dermatol Sci 2017 Jun 11;86(3):206-211. Epub 2017 Mar 11.
    Department of Dermatology, Tokushima University Graduate School of Medical Science, Tokushima, Japan. Electronic address:
    Background: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder mainly caused by heterozygous mutations of PTCH1. In addition to characteristic clinical features, detection of a mutation in causative genes is reliable for the diagnosis of NBCCS; however, no mutations have been identified in some patients using conventional methods.

    Objective: To improve the method for the molecular diagnosis of NBCCS. Read More

    Brain morphology in children with nevoid basal cell carcinoma syndrome.
    Am J Med Genet A 2017 Apr;173(4):946-952
    Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan.
    Brain morphology is tightly regulated by diverse signaling pathways. Hedgehog signaling is a candidate pathway considered responsible for regulating brain morphology. Nevoid basal cell carcinoma syndrome (NBCCS), caused by a PTCH1 mutation in the hedgehog signaling pathway, occasionally exhibits macrocephaly and medulloblastoma. Read More

    Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.
    Intern Med J 2017 Jun;47(6):664-673
    Department of Genetic Medicine, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
    Background: Gorlin syndrome (nevoid basal cell carcinoma syndrome) is a rare genetic predisposition to basal cell carcinomas (BCC), keratocysts of the jaw and calcification of the falx cerebri among other clinical features. With the advent of sonic hedgehog inhibitors for the treatment of BCC, it is timely to establish a cohort of individuals with Gorlin syndrome and collect standardised phenotypic information on these individuals. Moreover, the health-related quality of life (QoL) in individuals with Gorlin syndrome is not well studied. Read More

    Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review.
    Case Rep Dermatol 2017 Jan-Apr;9(1):1-5. Epub 2017 Jan 10.
    Department of Dermatology, University Hospital Basel, Basel, Switzerland; Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
    Papular epidermal nevus with "skyline" basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Read More

    Two intermittent vismodegib dosing regimens in patients with multiple basal-cell carcinomas (MIKIE): a randomised, regimen-controlled, double-blind, phase 2 trial.
    Lancet Oncol 2017 Mar 8;18(3):404-412. Epub 2017 Feb 8.
    Klinik für Dermatologie, Venereologie und Allergologie, Universitätsklinikum Essen, Essen, Germany.
    Background: Vismodegib, a first-in-class Hedgehog-pathway inhibitor, is approved for use in adults with advanced basal-cell carcinoma. Patients with multiple basal-cell carcinomas, including those with basal-cell nevus (Gorlin) syndrome, need extended treatment. We assessed the safety and activity of two long-term intermittent vismodegib dosing regimens in patients with multiple basal-cell carcinomas. Read More

    Photodynamic therapy for dermatologic conditions in the pediatric population: a literature review.
    Photodermatol Photoimmunol Photomed 2017 May 17;33(3):125-134. Epub 2017 Mar 17.
    Department of Dermatology, Cleveland Clinic, Cleveland, OH, USA.
    Photodynamic therapy (PDT), using topical aminolevulinic acid (ALA), has been used for years to treat a variety of dermatologic conditions, including actinic keratosis, superficial basal cell carcinoma, and in situ squamous cell carcinoma. While there is a wide range of neoplastic and non-neoplastic skin diseases for which ALA-PDT is used in adults, there is a knowledge gap when it comes to its use in children. This review highlights what is currently known regarding the use and efficacy of this therapy in the pediatric population. Read More

    Nevoid Basal Cell Carcinoma Syndrome and Hairy Skin Patches.
    Pediatr Dermatol 2017 Mar 25;34(2):e97-e98. Epub 2017 Jan 25.
    Department of Dermatology, University of California, Davis, Sacramento, California.
    We report a case of an increasing number of discrete patches of darkly pigmented terminal hair in a patient with nevoid basal cell carcinoma syndrome. This case adds to a small case series of three patients which have previously reported this observation. We report this case to highlight hairy patches as an important clinical feature associated with nevoid basal cell carcinoma syndrome. Read More

    Dermoscopy of Papular Epidermal Nevus with Skyline Basal Cell Layer.
    Pediatr Dermatol 2017 Mar 23;34(2):e99-e101. Epub 2017 Jan 23.
    Division of Dermatology "U.O. Multizonale", Outpatient Consultation for Rare Diseases, "S. Chiara" Hospital, Trento, Italy.
    Papular epidermal nevus with skyline basal cell layer (PENS) is a newly described keratinocytic nevus whose dermoscopic characteristics have not been clarified. We used a dermatoscope to investigate the multiple PENSs of a patient with PENS syndrome. All the lesions shared a common dermoscopic homogeneous white pattern surrounded by peripheral, slightly dotted hyperpigmentation. Read More

    An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.
    Head Neck Pathol 2017 Jan 21. Epub 2017 Jan 21.
    Department of Histopathology, King's College Hospital, London, SE5 9R, UK.
    Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome). In some syndromes, the disease is multisystem with skin index lesions presenting in the head and neck (Cowden syndrome and tuberous sclerosis complex). Read More

    Recurrence probability for keratocystic odontogenic tumors: An analysis of 6427 cases.
    J Craniomaxillofac Surg 2017 Feb 19;45(2):244-251. Epub 2016 Nov 19.
    Department of Oral Surgery and Pathology, School of Dentistry, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil. Electronic address:
    Purpose: To investigate and compare the probability of recurrence of keratocystic odontogenic tumors (KCOTs) for different variables and treatment protocols.

    Materials And Methods: An electronic search was undertaken in April 2016 that included clinical series of KCOTs reporting recurrences. Untransformed proportions and meta-analyses were performed to estimate the probability/risk of recurrence, according to several variables. Read More

    Use of anteromedial thigh perforator flap and immunological implications of Gorlin-Goltz syndrome: a case study.
    J Wound Care 2016 Dec;25(12):763-767
    Department of Plastic and Reconstructive Surgery, Politechnical University of Marche, Italy.
    Gorlin-Goltz syndrome is mainly characterised by the development of numerous multicentric and relapsing cutaneous basal cell carcinomas (BCCs). A major problem for patients with Gorlin-Goltz syndrome is the large amount of BCCs that can invade the deep underlying structures, especially the face. Here, we describe the case of a 23-year-old male affected by Gorlin-Goltz syndrome. Read More

    Targeting the Hedgehog Pathway for Locally Advanced and Metastatic Basal Cell Carcinoma.
    Curr Pharm Des 2017 ;23(4):655-659
    Orbital Oncology and Ophthalmic Plastic Surgery, Department of Plastic Surgery, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Unit 1488, Houston, Texas 77030. United States.
    Basal cell caricnoma (BCC), the most common periocular magliancy, is treated with complete surgical excision. However, in patients not amenable to surgery or when surgical resection means loss of vital organs or disfiguring procedures due to locally advanced or metastatic disease, targeting the hedgehog pathway offers a novel treatment approach for such patients. Mutation in PTCH1 and SMO has been identified in patients with basal cell nevoid syndrome as well as in patients with sporadic BCC. Read More

    Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome: Development of a Basal Cell Nevus Syndrome Patient Registry.
    JAMA Dermatol 2016 Nov 30. Epub 2016 Nov 30.
    Department of Dermatology, Stanford University School of Medicine, Stanford, California.
    Importance: Patients with basal cell nevus syndrome (BCNS) have a greater risk of developing numerous basal cell carcinomas (BCCs). Risk factors influencing the wide variation in tumor burden are poorly understood.

    Objective: To describe the burden of BCCs in patients with BCNS in the United States and identify potential risk factors for BCCs. Read More

    GLI1, a master regulator of the hallmark of pancreatic cancer.
    Pathol Int 2016 Dec 8;66(12):653-660. Epub 2016 Nov 8.
    Department of Pathology, Aichi Medical University School of Medicine, Nagakute, Aichi, Japan.
    Hedgehog signaling is highly conserved across species and governs proper embryonic development. Germline gene mutations that reduce this signaling activity cause a variety of developmental abnormalities such as holoprosencephaly, while those that enhance Hedgehog signaling activity induce a tumor-predisposition condition Nevoid basal cell carcinoma syndrome. Furthermore, dysregulated activation of Hedgehog signaling has been recognized in various sporadic malignancies, including pancreatic adenocarcinoma. Read More

    Odontogenic keratocysts in the Basal Cell Nevus (Gorlin-Goltz) Syndrome associated with paresthesia of the lower jaw: Case report, retrospective analysis of a representative Czech cohort and recommendations for the early diagnosis.
    Neuro Endocrinol Lett 2016 Sep;37(4):269-276
    Department of Stomatology, Charles University 2nd Faculty of Medicine and University Hospital in Motol, Prague, Czech Republic.
    Objectives: Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated with a principal triad of multiple basal cell nevi, jaw odontogenic keratocysts, and skeletal anomalies, in stomatological and neurological practices. Proposal of multidisciplinary diagnostic algorithm comprising other medical specialists, including pathology, imaging, laboratory and molecular analyses based on the study outcomes.

    Design: Case report of a male patient reporting paresthesia of their lower jaw, with right facial asymmetry (maxilla and mandible) and radiological detection of large osteolytic lesions in both jaws, including a retrospective analysis of a representative Czech cohort with BCNS from within the last decade. Read More

    Treatment of nevoid basal cell carcinoma syndrome: a case report.
    J Korean Assoc Oral Maxillofac Surg 2016 Oct 25;42(5):284-287. Epub 2016 Oct 25.
    Department of Oral and Maxillofacial Surgery, School of Dentistry, Chosun University, Gwangju, Korea.
    Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is characterized by various embryological deformities and carcinoma formation. It is caused by PTCHI gene mutations and is autosomal dominantly inherited. Some of the main symptoms of NBCCS are multiple basal cell carcinomas, multiple keratocystic odontogenic tumors (KCOTs) of the mandible, hyperkeratosis of the palmar and plantar, skeletal deformity, calcification of the falx cerebri, and facial defomity. Read More

    Gorlin-Goltz Syndrome: A Rare Case Report of a 11-Year-Old Child.
    Int J Clin Pediatr Dent 2016 Jul-Sep;9(3):264-268. Epub 2016 Sep 27.
    Associate Professor, Department of Oral Pathology, NIMS Dental College, Jaipur Rajasthan, India.
    Gorlin-Goltz Syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant trait caused due to mutations in the patched tumor suppressor gene (PTCH) gene found on the long arm of chromosome 9. The syndrome is characterized by the presence of odontogenic keratocysts (OKCs), basal cell carcinomas, and skeletal malformations. Early diagnosis of the syndrome can be done by pedodontist as OKC is one of the early manifestations of the syndrome. Read More

    Inhibition of the hedgehog pathway in patients with basal-cell nevus syndrome: final results from the multicentre, randomised, double-blind, placebo-controlled, phase 2 trial.
    Lancet Oncol 2016 Dec 10;17(12):1720-1731. Epub 2016 Nov 10.
    Children's Hospital of Oakland Research Institute, Oakland, CA, USA. Electronic address:
    Background: Aberrant hedgehog signalling underlies the development of basal-cell carcinomas. We previously reported the interim analysis of a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial in patients with the basal-cell nevus (Gorlin) syndrome indicating that the smoothened inhibitor vismodegib reduces basal-cell carcinoma tumour burden and prevents new basal-cell carcinoma growth in patients with basal-cell nevus syndrome. We report the final results of this 36 month trial. Read More

    Photodynamic Therapy and Non-Melanoma Skin Cancer.
    Cancers (Basel) 2016 Oct 22;8(10). Epub 2016 Oct 22.
    Dermatology Centre, Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester M6 8HD, UK.
    Non-melanoma skin cancer (NMSC) is the most common malignancy among the Caucasian population. Photodynamic therapy (PDT) is gaining popularity for the treatment of basal cell carcinoma (BCC), Bowen's disease (BD) and actinic keratosis (AK). A topical or systemic exogenous photosensitiser, results in selective uptake by malignant cells. Read More

    Basal Cell Carcinoma of the Umbilicus: A Comprehensive Literature Review.
    Cureus 2016 Sep 7;8(9):e770. Epub 2016 Sep 7.
    Department of Dermatology, University of California, San Diego.
    Basal cell carcinoma (BCC) typically occurs in sun-exposed sites. Only 16 individuals with umbilical BCC have been described in the literature, and the characteristics of patients with umbilical BCC are summarized. PubMed was used to search the following terms: abdomen, basal cell carcinoma, basal cell nevus syndrome, and umbilicus. Read More

    Non-Syndromic Familial Keratocystic Odontogenic Tumour: A Rare Case Report in Japanese Identical Twins.
    J Clin Diagn Res 2016 Aug 1;10(8):ZD28-30. Epub 2016 Aug 1.
    Assistant Director, Department of Pathology, Musashino Red Cross Hospital , Tokyo, Japan .
    Keratocystic Odontogenic Tumour (KCOT) is unicystic or multicystic intraosseous benign tumour of odontogenic origin that recurs due to locally destructive behaviour. KCOTs are usually the first manifestation of Nevoid Basal Cell Carcinoma Syndrome (NBCCS), an autosomal dominant disorder also known as Gorlin's syndrome and they are most frequently observed familial symptom regardless of patients' nationality. In addition, the recurrence rate and multiplicity of KCOTs is relatively high as compared to that of other sporadic carcinomas. Read More

    KCOT Occurring in Bilateral Maxillary Sinus in Non-Syndromic Patient.
    J Clin Diagn Res 2016 Aug 1;10(8):ZD16-8. Epub 2016 Aug 1.
    Lecturer, Department of Oral and Maxillofacial Surgery, Sri Aurobindo College of Dentistry , Indore, Madhya Pradesh, India .
    Odontogenic Keratocyst (OKC) also termed as Keratocystic Odontogenic Tumour (KCOT) (WHO 2005) is a pathology with unique behavior because of which it is under much scrutiny and continued study. The pathology usually presents itself commonly in mandible and less commonly in maxilla. The occurrence of KCOT in maxillary sinus is reported as rare and multiple occurrences are mostly associated along with the presence of Nevoid Basal Cell Carcinoma (NBCC) syndrome. Read More

    Nevoid Basal Cell Carcinoma Syndrome - Clinical and Radiological Findings of Three Cases.
    Cureus 2016 Aug 8;8(8):e727. Epub 2016 Aug 8.
    Oral Medicine and Radiology, Nair Hospital Dental College.
    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder, characterized by skeletal anomalies and multiple keratocystic odontogenic tumors of the jaws. The skeletal anomalies of this syndrome are mandibular prognathism, bossing of frontal and parietal bones, high-arched palate, and bifid rib. We report three cases with NBCCS, emphasizing the clinical and radiographic findings, the importance of the early diagnosis of NBCCS, and a preventive multidisciplinary approach in the management of NBCCS. Read More

    Safety and efficacy of vismodegib in patients with basal cell carcinoma nevus syndrome: pooled analysis of two trials.
    Orphanet J Rare Dis 2016 Sep 1;11(1):120. Epub 2016 Sep 1.
    Mayo Clinic, 13400 East Shea Boulevard, Scottsdale, AZ, 85259, USA.
    Background: Aberrant activation of the Hedgehog (Hh) pathway is a key driver in the pathogenesis of basal cell carcinomas (BCCs), including patients with BCC nevus syndrome (BCCNS). It is unclear whether BCCs arising in patients with BCCNS respond differently to vismodegib than in patients without BCCNS. We examined the best overall response rate (BORR) and adverse events (AEs) of vismodegib in patients with advanced BCC (aBCC) with and without BCCNS. Read More

    Syndrome in question: Gorlin-Goltz syndrome.
    An Bras Dermatol 2016 Jul-Aug;91(4):541-3
    Hospital Santa Casa de Misericórdia de Vitória (HSCMV) - Vitória (ES), Brazil.
    The Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an uncommon disorder caused by a mutation in Patched, tumor suppressor gene. It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. Read More

    Gorlin-Goltz syndrome: An often missed diagnosis.
    Ann Maxillofac Surg 2016 Jan-Jun;6(1):120-4
    Department of Oral and Maxillofacial Surgery, Mar Baselios Dental College, Kothamangalam, Ernakulam, Kerala, India.
    Gorlin-Goltz syndrome due to its high variability in expression are often not diagnosed as the syndrome and often managed same as that of odontogenic keratocyst. But a more careful approach for the syndrome is needed as there is high chance of malignant changes owing to improper management of the syndrome. In this manuscript a case report of Gorlin-Goltz syndrome with the diagnostic features of the same in Indian population along with the difference in treatment protocol from treating an odontogenic keratocyst is described with review of literature. Read More

    Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.
    Fam Cancer 2017 Jan;16(1):131-138
    Department of Molecular Genetics, Kitasato University Graduate School of Medical Sciences, Sagamihara, Japan.
    Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental defects and tumorigenesis such as medulloblastomas and basal cell carcinomas, caused by mutations of the patched-1 (PTCH1) gene. To date, we have detected 73 mutations in PTCH1 and ten of them (14 %) were suspected splicing mutations. Eight out of the ten mutations were localized near the splice donor site. Read More

    Cytotoxic and targeted therapy for hereditary cancers.
    Hered Cancer Clin Pract 2016 23;14(1):17. Epub 2016 Aug 23.
    N.N. Petrov Institute of Oncology, Pesochny-2, St. Petersburg, 197758 Russia ; St. Petersburg Pediatric Medical University, St. Petersburg, 194100 Russia ; I.I. Mechnikov North-Western Medical University, St. Petersburg, 191015 Russia ; St. Petersburg State University, St. Petersburg, 199034 Russia.
    There is a number of drugs demonstrating specific activity towards hereditary cancers. For example, tumors in BRCA1/2 mutation carriers usually arise via somatic inactivation of the remaining BRCA allele, which makes them particularly sensitive to platinum-based drugs, PARP inhibitors (PARPi), mitomycin C, liposomal doxorubicin, etc. There are several molecular assays for BRCA-ness, which permit to reveal BRCA-like phenocopies among sporadic tumors and thus extend clinical indications for the use of BRCA-specific therapies. Read More

    BASAL CELL NEVUS SYNDROME PRESENTING AS EPIRETINAL MEMBRANE AND MYELINATED NERVE FIBER LAYER.
    Retin Cases Brief Rep 2017 Winter;11 Suppl 1:S151-S154
    *Department of Ophthalmology, Henry Ford Hospital, Detroit, Michigan; and †Retina Consultants of Michigan, Southfield, Michigan.
    Purpose: To report a case of epiretinal membrane and myelinated nerve fiber layer, which preceded the diagnosis of basal cell nevus syndrome, in a young girl.

    Methods: Observational case report.

    Results: A 12-year-old girl was referred for an asymptomatic epiretinal membrane. Read More

    Development of mediastinal lymphoma after radiotherapy for concurrent medulloblastoma and PNET in a patient with Gorlin syndrome.
    World J Surg Oncol 2016 Aug 12;14(1):215. Epub 2016 Aug 12.
    Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, 6 Tiantan xili, Chonwen District, Beijing, 100050, China.
    Background: Very young children with Gorlin syndrome are at risk for developing medulloblastoma. Patients with Gorlin syndrome may have multiple system abnormalities, including basal cell carcinomas, jaw cysts, desmoplastic medulloblastoma, palmar/plantar pits, rib abnormalities, and intracranial falx calcification. The early diagnosis of Gorlin syndrome in desmoplastic medulloblastoma patients is very important because these patients should receive chemotherapy as a first-line treatment and should avoid radiotherapy as much as possible. Read More

    Ingenol Mebutate Treatment in a Patient with Gorlin Syndrome.
    Dermatology 2016 11;232 Suppl 1:29-31. Epub 2016 Aug 11.
    Department of Dermatology, University Hospital Inselspital, University of Bern, Bern, Switzerland.
    Background: Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is characterized by developing multiple basal cell carcinomas (BCCs) in adolescent patients. Other clinical features include mandibular keratocysts, palmar and plantar pits, skeletal abnormalities and malformations central nervous system and genital tract. Read More

    A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome.
    Indian J Pathol Microbiol 2016 Jul-Sep;59(3):335-8
    Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey.
    Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. Read More

    Mutiple keratocystic odontogenic tumors (KCOT) in a patient with Gorlin syndrome: a case report with late presentation and absence of skin manifestations.
    BMC Res Notes 2016 Jul 22;9:357. Epub 2016 Jul 22.
    Dhaka Medical College, Dhaka, Bangladesh.
    Background: Gorlin syndrome is a rare autosomal dominant syndrome characterized by multiple basal cell carcinomas, keratocystic odontogenic tumors (KOT) and falx cerebral calcifications, which occur due to mutation in PTCH gene.

    Case Presentation: A 36 year old Asian patient presented with jaw swelling and pain. Radiographic examination revealed six cysts in maxilla and mandible which were excised and histologically were compatable with keratocystic odontogenic tumors. Read More

    SHH desmoplastic/nodular medulloblastoma and Gorlin syndrome in the setting of Down syndrome: case report, molecular profiling, and review of the literature.
    Childs Nerv Syst 2016 Dec 21;32(12):2439-2446. Epub 2016 Jul 21.
    The Divisions of Hematology/Oncology/BMT, Neurosurgery and Neuropathology, the Departments of Pediatrics, Surgery and Pathology, Nationwide Children's Hospital and The Ohio State University, Columbus, OH, USA.
    Introduction: Individuals with Down syndrome (DS) have an increased risk of acute leukemia compared to a markedly decreased incidence of solid tumors. Medulloblastoma, the most common malignant brain tumor of childhood, is particularly rare in the DS population, with only one published case. As demonstrated in a mouse model, DS is associated with cerebellar hypoplasia and a decreased number of cerebellar granule neuron progenitor cells (CGNPs) in the external granule cell layer (EGL). Read More

    Pediatric Fibroblastic and Myofibroblastic Tumors: A Pictorial Review.
    Radiographics 2016 Jul-Aug;36(4):1195-214
    From the Mallinckrodt Institute of Radiology (K.M.S., E.F.S., G.K.) and Department of Pathology (A.S., J.A.C.), Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131-MIR, St Louis, MO 63110.
    Pediatric fibroblastic and myofibroblastic tumors are a relatively common group of soft-tissue proliferations that are associated with a wide spectrum of clinical behavior. These tumors have been divided into the following categories on the basis of their biologic behavior: benign (eg, myositis ossificans, myofibroma, fibromatosis colli), intermediate-locally aggressive (eg, lipofibromatosis, desmoid fibroma), intermediate-rarely metastasizing (eg, inflammatory myofibroblastic tumors, infantile fibrosarcoma, low-grade myofibroblastic sarcoma), and malignant (eg, fibromyxoid sarcoma, adult fibrosarcoma). Imaging has a key role in the evaluation of lesion origin, extent, and involvement with adjacent structures, and in the treatment management and postresection surveillance of these tumors. Read More

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