keyword
MENU ▼
Read by QxMD icon Read
search

Gorlin Goltz syndrome

keyword
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
#1
(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/27843260/gorlin-goltz-syndrome-a-rare-case-report-of-a-11-year-old-child
#2
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/27647326/glypican-3-distinguishes-aggressive-from-non-aggressive-odontogenic-tumors-a-preliminary-study
#3
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/27579759/syndrome-in-question-gorlin-goltz-syndrome
#4
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
#5
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
#6
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/27513585/ingenol-mebutate-treatment-in-a-patient-with-gorlin-syndrome
#7
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
#8
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
#9
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/27342409/male-fertility-and-skin-diseases
#10
M Badawy Abdel-Naser, Christos C Zouboulis
Male fertility can be affected by a variety of organs diseases, including the skin. Several genodermatoses affect the skin and several other organs including the male reproductive system, commonly in the form of cryptorchidism and hypogonadism. The most relevant syndromes are associated with dyschromias, such as deSanctis-Cacchione, poikiloderma congenital, LEOPARD, and H syndrome; others with ichthyosis, such as Rud, and trichothiodystrophy; or a group of unrelated genodermatoses, such as ablepharon macrostomia, Coffin-Siris, Gorlin-Goltz, and Werner...
June 25, 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27341828/-focal-dermal-hypoplasia-goltz-gorlin-syndrome-the-cause-is-now-known
#11
K A Giehl
No abstract text is available yet for this article.
July 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/27335612/odontogenic-keratocyst-in-children-a-review
#12
Ahmed H Kamil, Bassel Tarakji
OBJECTIVE: Is to highlight the characteristics and management of odontogenic keratocyst in children only. MATERIAL AND METHOD: Computerized search in pubmed between (2005-2015) using specific words such as odontogenic keratocyst in children, odontogenic keratocyst association with Gorlin-Goltz syndrome with abstract written in English only. RESULT: During computerized literature search 77 articles in the years (2005-2015) were found. All these publications were miscellaneous studies including case series and case reports...
2016: Open Dentistry Journal
https://www.readbyqxmd.com/read/27195205/keratocystic-odontogenic-tumors-related-to-gorlin-goltz-syndrome-a-clinicopathological-study
#13
Mohammed Israr Ul Khaliq, Ajaz A Shah, Irshad Ahmad, Shahid Hasan, Sagar S Jangam, Farah, Anwar
BACKGROUND: Assess clinicopathological features of patients with keratocystic odontogenic tumor (KCOT) associated with Gorlin-Goltz syndrome in our institution from 2004 to 2015. METHOD: After histopathological analyses of KCOT related to Gorlin-Goltz syndrome, 7 patients were assessed. These patients presented a total of 15 primary and 2 recurrent KCOT. RESULTS: All patients presented a multiple KCOT, and 13 lesions were located in mandible (77%) and 4 (23%) in maxilla...
May 2016: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/27107679/wall-paintings-facies-and-their-possible-genetic-correlates-in-the-ancient-pompeii-a-bio-anthropologic-message-from-the-past
#14
Giovanni Ponti, Marco Manfredini, Cristel Ruini
The figurative arts and precisely the ancient Pompeian wall paintings portraits can provide an additional source of information in supplementing bio-anthropological studies. There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to distinctive facial features. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1...
September 10, 2016: Gene
https://www.readbyqxmd.com/read/27054559/nevoid-basal-cell-carcinoma-syndrome-report-from-the-zurich-nevoid-basal-cell-carcinoma-syndrome-cohort
#15
Susanne Rehefeldt-Erne, Mirjam C Nägeli, Nina Winterton, Lea Felderer, Lisa Weibel, Jürg Hafner, Reinhard Dummer
BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin-Goltz syndrome) presents various symptoms and can disfigure patients. The estimated prevalence is around 1:100,000. OBJECTIVE: To systematically investigate the clinical manifestations of NBCCS patients of the Zurich register and compare them with those described in 4 epidemiological studies performed in other countries. METHODS: We analyzed patient characteristics and clinical manifestations in a register of 30 NBCCS patients in Zurich, Switzerland...
2016: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/27011939/syndromic-odontogenic-keratocyst-a-case-report-and-review-of-literature
#16
Fazil Arshad
Odontogenic keratocysts (OKCs) may occur in two different forms, either as solitary (nonsyndromic OKCs) or as multiple OKCs (syndromic OKCs). Multiple OKCs usually occur as one of the findings in Gorlin-Goltz syndrome with other features such as skin carcinomas and rib, eye, and neurologic abnormalities. We report a rare case of Gorlin-Goltz syndrome in a 20-year-old male patient who presented with a slow growing swelling on lower right and left back teeth region since 2 months. Apart from these, other findings were frontal bossing, depressed nasal bridge, ocular hypertelorism, prominent supra orbital ridge, and mild mandibular prognathism...
January 2016: Journal of International Society of Preventive & Community Dentistry
https://www.readbyqxmd.com/read/27001925/growth-nutritional-and-gastrointestinal-aspects-of-focal-dermal-hypoplasia-goltz-gorlin-syndrome
#17
Kathleen J Motil, Mary Fete, Timothy J Fete
Focal dermal hypoplasia (FDH) is a rare genetic disorder caused by mutations in the PORCN gene located on the X-chromosome. In the present study, we characterized the pattern of growth, body composition, and the nutritional and gastrointestinal aspects of children and adults (n = 19) affected with this disorder using clinical anthropometry and a survey questionnaire. The mean birth length (P < 0.06) and weight (P < 0.001) z-scores of the participants were lower than the reference population...
March 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/26889355/nevoid-basal-cell-carcinoma-syndrome-a-long-term-study-in-a-family
#18
Thiago de Santana Santos, André Vajgel, Paulo Ricardo Saquete Martins-Filho, Almir Walter de Albuquerque Maranhao Filho, Ricardo José De Holanda Vasconcellos, Riedel Frota, José Rodrigues Laureano Filho
We present a family case series with 10 individuals having nevoid basal cell carcinoma syndrome (NBCCS) with a 10-year follow-up. All articles published in the literature between 1967 and 2011 on familial Gorlin-Goltz syndrome in any language were surveyed to determine the mapping of cases per country of occurrence of this disease. All patients in the present series were presented with calcification of the falx cerebri, mild hypertelorism, and frontal bossing. Odontogenic keratocystic tumors, palmar and plantar pits, and multiple basal cell carcinomas occurred in 90, 40, and 20%, respectively, of the patients...
March 2016: Craniomaxillofacial Trauma & Reconstruction
https://www.readbyqxmd.com/read/26882376/aktuelle-diagnostik-und-behandlung-des-basalzellkarzinoms
#19
Mareike Alter, Uwe Hillen, Ulrike Leiter, Michael Sachse, Ralf Gutzmer
Das Basalzellkarzinom ist der häufigste Tumor des hellhäutigen Menschen, altersstandardisiert liegt die Inzidenz bei 63 (Frauen) bzw. 80 (Männer) pro 100 000 Einwohner pro Jahr in Deutschland. Frühe Läsionen können klinisch eine diagnostische Herausforderung darstellen, hier können nichtinvasive Diagnoseverfahren wie die optische Kohärenztomographie und die konfokale Laserscanmikroskopie hilfreich sein. Die klinische Verdachtsdiagnose wird in der Regel mittels Gewebeuntersuchung histologisch bestätigt...
September 2015: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
https://www.readbyqxmd.com/read/26882375/current-diagnosis-and-treatment-of-basal-cell-carcinoma
#20
Mareike Alter, Uwe Hillen, Ulrike Leiter, Michael Sachse, Ralf Gutzmer
Basal cell carcinoma represents is most common tumor in fair-skinned individuals. In Germany, age-standardized incidence rates are 63 (women) and 80 (men) per 100,000 population per year. Early lesions may be difficult to diagnose merely on clinical grounds. Here, noninvasive diagnostic tools such as optical coherence tomography and confocal laser scanning microscopy may be helpful. The clinical diagnosis is usually confirmed by histology. Standard therapy consists of complete excision with thorough histological examination, either by means of micrographic surgery or, depending on tumor size and location as well as infiltration, using surgical margins of 3-5 mm or more...
September 2015: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
keyword
keyword
102449
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"