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gorlin's syndrome

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https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#1
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27857042/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
#2
(no author information available yet)
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...
September 18, 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27847737/treatment-of-nevoid-basal-cell-carcinoma-syndrome-a-case-report
#3
Dong-Uk Seo, Su-Gwan Kim, Ji-Su Oh, Jae-Seek You
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. Recurrent KCOT is the main symptom of NBCCS and is present in approximately 90% of patients...
October 2016: Journal of the Korean Association of Oral and Maxillofacial Surgeons
https://www.readbyqxmd.com/read/27843260/gorlin-goltz-syndrome-a-rare-case-report-of-a-11-year-old-child
#4
Sandeep Tandon, Yashwant Chauhan, Meenakshi Sharma, Manish Jain
: 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. Early diagnosis and treatment is important for long-term prognosis of the syndrome by reducing the severity of cutaneous carcinomas and deformities due to jaw cyst...
July 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27782094/photodynamic-therapy-and-non-melanoma-skin-cancer
#5
REVIEW
Liezel L Griffin, John T Lear
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. Protoporphyrin IX (PpIX) is produced then activated by the introduction of a light source. Daylight-mediated MAL (methyl aminolaevulinate) PDT for AKs has the advantage of decreased pain and better patient tolerance...
October 22, 2016: Cancers
https://www.readbyqxmd.com/read/27647915/mechanism-of-inhibition-of-the-tumor-suppressor-patched-by-sonic-hedgehog
#6
Hanna Tukachinsky, Kostadin Petrov, Miyako Watanabe, Adrian Salic
The Hedgehog cell-cell signaling pathway is crucial for animal development, and its misregulation is implicated in numerous birth defects and cancers. In unstimulated cells, pathway activity is inhibited by the tumor suppressor membrane protein, Patched. Hedgehog signaling is triggered by the secreted Hedgehog ligand, which binds and inhibits Patched, thus setting in motion the downstream events in signal transduction. Despite its critical importance, the mechanism by which Hedgehog antagonizes Patched has remained unknown...
October 4, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27647326/glypican-3-distinguishes-aggressive-from-non-aggressive-odontogenic-tumors-a-preliminary-study
#7
Ramon Barreto Mendes, Rosane Borges Dias, Andreia Leal Figueiredo, Clarissa Araújo Gurgel, Manoel Santana Filho, Leonardo Araújo Melo, Marília Trierveiler, Patrícia Ramos Cury, Rosalia Leonardi, Jean Nunes Dos Santos
BACKGROUND: Glypican-3 is a cell surface proteoglycan that is found in embrionary tissues, and there are no studies investigating this protein in odontogenic tumor. Thus, the aim of this study was to investigate glypican-3 in a series of aggressive and non-aggressive odontogenic tumors. METHODS: Fifty-nine cases of tumors were divided into aggressive odontogenic tumors (20 solid ameloblastomas, four unicystic ameloblastoma, 28 KOTs including five associated with Gorlin-Goltz syndrome) and non-aggressive odontogenic tumors (five adenomatoid odontogenic tumors and two calcifying cystic odontogenic tumors) and analyzed for glypican-3 using immunohistochemistry...
September 20, 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27595027/combined-hamartoma-of-the-retina-and-retinal-pigment-epithelium-in-a-patient-with-gorlin-syndrome-spontaneous-partial-resolution-of-traction-caused-by-epiretinal-membrane
#8
José L Sánchez-Vicente, Miguel Contreras-Díaz, Trinidad Rueda, Enrique Rodríguez de la Rúa-Franch, Fredy E Molina-Socola, Cristina Vital-Berral, Asunción Alfaro-Juárez, Fernando López-Herrero, Ana Muñoz-Morales
Purpose. To describe the case of spontaneous resolution of epiretinal membrane in a patient with Combined Hamartoma of the Retina and Retinal Pigment Epithelium (CHR-RPE), in the clinical context of Gorlin Syndrome (GS). Methods. Observational case report of a 12-year-old female patient is presented. The diagnosis of CHRRPE was made by OCT and fundus examination, which showed a mound of disorganized tissue originating from retina and retinal pigment epithelium. Epiretinal membrane (EM) was also detected. Genetic study was performed to confirm the diagnosis of GS...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27579759/syndrome-in-question-gorlin-goltz-syndrome
#9
Pauline Lyrio Ribeiro, João Basílio de Souza, Karina Demoner de Abreu, Marisa Simon Brezinscki, Christine Chambo Pignaton
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. We report a typical case in a 30-year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome...
July 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27563620/gorlin-goltz-syndrome-an-often-missed-diagnosis
#10
Ninan Thomas, Sankar V Vinod, Arun George, Aabu Varghese
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...
January 2016: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/27536718/management-of-pedal-fibrovascular-papillomas-in-goltz-gorlin-syndrome
#11
Andrew J DeCrescenzo, Olga S Bachilo, Eric L Cole, Michael G Wilkerson
No abstract text is available yet for this article.
July 2016: JAAD Case Reports
https://www.readbyqxmd.com/read/27519263/development-of-mediastinal-lymphoma-after-radiotherapy-for-concurrent-medulloblastoma-and-pnet-in-a-patient-with-gorlin-syndrome
#12
Tao Jiang, Junmei Wang, Ying Wang, Chunde Li
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...
August 12, 2016: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/27513585/ingenol-mebutate-treatment-in-a-patient-with-gorlin-syndrome
#13
Marco Stieger, Robert E Hunger
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...
2016: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/27510672/a-novel-ptch1-gene-mutation-in-a-pediatric-patient-associated-multiple-keratocystic-odontogenic-tumors-of-the-jaws-and-gorlin-goltz-syndrome
#14
Gozde Ozcan, Burhan Balta, Ahmet Ercan Sekerci, Osman A Etoz, Claudia Martinuzzi, Ozlem Kara, Lorenza Pastorino, Fatma Kocoglu, Omer Ulker, Murat Erdogan
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. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11-year-old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out...
July 2016: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/27475699/role-of-carnoy-s-solution-in-the-treatment-of-keratocystic-odontogenic-tumor-a-systematic-review
#15
Á Díaz-Belenguer, A Sánchez-Torres, C Gay-Escoda
INTRODUCTION AND OBJECTIVE: The keratocystic odontogenic tumor is a benign but aggressive neoplasm. As enucleation alone obtains high recurrence rates, some adjuvant treatments such as Carnoy's solution have been proposed. The aim of this study is to evaluate the reduction of recurrences with the use of Carnoy's solution as adjuvant in the treatment of keratocystic odontogenic tumors. MATERIAL AND METHODS: An electronic search in Pubmed (MEDLINE), ScienceDirect and Cochrane databases was conducted with the key words "odontogenic keratocyst", "keratocystic odontogenic tumor", "carnoy's solution", "treatment" and "enucleation"...
November 1, 2016: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/27461144/can-hair-re-growth-be-considered-an-early-clinical-marker-of-treatment-resistance-to-hedgehog-inhibitors-in-patients-with-advanced-basal-cell-carcinoma-a-report-of-two-cases
#16
E Soura, M Plaka, C Dessinioti, K Syrigos, A J Stratigos
INTRODUCTION: Basal cell carcinomas (BCCs) are the most common skin cancers in the Caucasian population. BCCs are in the majority of cases adequately managed with surgical excision, however a small subset of these tumours exhibit resistance to conventional therapies and progress to become locally advanced or even metastatic. Although Hedgehog inhibitors have been successfully used during the last few years in the treatment of locally advanced or metastatic BCCs, resistance to treatment remains an issue...
July 27, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27448602/mutiple-keratocystic-odontogenic-tumors-kcot-in-a-patient-with-gorlin-syndrome-a-case-report-with-late-presentation-and-absence-of-skin-manifestations
#17
Atif Ali Hashmi, Muhammad Muzzammil Edhi, Naveen Faridi, Mervyn Hosein, Mehmood Khan
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...
2016: BMC Research Notes
https://www.readbyqxmd.com/read/27444290/shh-desmoplastic-nodular-medulloblastoma-and-gorlin-syndrome-in-the-setting-of-down-syndrome-case-report-molecular-profiling-and-review-of-the-literature
#18
Ross Mangum, Elizabeth Varga, Daniel R Boué, David Capper, Martin Benesch, Jeffrey Leonard, Diana S Osorio, Christopher R Pierson, Nicholas Zumberge, Felix Sahm, Daniel Schrimpf, Stefan M Pfister, Jonathan L Finlay
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)...
December 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27388747/akt1-activation-is-obligatory-for-spontaneous-bcc-tumor-growth-in-a-murine-model-that-mimics-some-features-of-basal-cell-nevus-syndrome
#19
Arianna L Kim, Jung Ho Back, Yucui Zhu, Xiuwei Tang, Nathan P Yardley, Katherine J Kim, Mohammad Athar, David R Bickers
Patients with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, develop numerous basal cell carcinomas (BCC) due to germline mutations in the tumor suppressor PTCH1 and aberrant activation of Hedgehog (Hh) signaling. Therapies targeted at components of the Hh pathway, including the smoothened (SMO) inhibitor vismodegib, can ablate these tumors clinically, but tumors recur upon drug discontinuation. Using SKH1-Ptch1(+/-) as a model that closely mimics the spontaneous and accelerated growth pattern of BCCs in patients with BCNS, we show that AKT1, a serine/threonine protein kinase, is intrinsically activated in keratinocytes derived from the skin of newborn Ptch1(+/-) mice in the absence of carcinogenic stimuli...
October 2016: Cancer Prevention Research
https://www.readbyqxmd.com/read/27374770/mutations-in-cdc45-encoding-an-essential-component-of-the-pre-initiation-complex-cause-meier-gorlin-syndrome-and-craniosynostosis
#20
Aimee L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sanchez-Pulido, Stephen R F Twigg, Anne Goriely, Simon J McGowan, Kerry A Miller, Indira B Taylor, Clare Logan, Sevcan Bozdogan, Sumita Danda, Joanne Dixon, Solaf M Elsayed, Ezzat Elsobky, Alice Gardham, Mariette J V Hoffer, Marije Koopmans, Donna M McDonald-McGinn, Gijs W E Santen, Ravi Savarirayan, Deepthi de Silva, Olivier Vanakker, Steven A Wall, Louise C Wilson, Ozge Ozalp Yuregir, Elaine H Zackai, Chris P Ponting, Andrew P Jackson, Andrew O M Wilkie, Wojciech Niedzwiedz, Louise S Bicknell
DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, microtia, and a/hypoplastic patellae. Biallelic partial loss-of-function mutations in multiple components of the pre-replication complex (preRC; ORC1, ORC4, ORC6, CDT1, or CDC6) as well as de novo stabilizing mutations in the licensing inhibitor, GMNN, cause MGS...
July 7, 2016: American Journal of Human Genetics
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