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Gorlin Goltz syndrome

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https://www.readbyqxmd.com/read/29100394/effects-of-photodynamic-therapy-on-dermal-fibroblasts-from-xeroderma-pigmentosum-and-gorlin-goltz-syndrome-patients
#1
Alicia Zamarrón, Marta García, Marcela Del Río, Fernando Larcher, Ángeles Juarranz
PDT is widely applied for the treatment of non-melanoma skin cancer pre-malignant and malignant lesions (actinic keratosis, basal cell carcinoma and in situ squamous cell carcinoma). In photodynamic therapy (PDT) the interaction of a photosensitizer (PS), light and oxygen leads to the formation of reactive oxygen species (ROS) and thus the selective tumor cells eradication. Xeroderma pigmentosum (XP) and Gorlin-Goltz Syndrome (GS) patients are at high risk of developing skin cancer in sun-exposed areas. Therefore, the use of PDT as a preventive treatment may constitute a very promising therapeutic modality for these syndromes...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29062253/gorlin-goltz-syndrome
#2
Betül Şereflican, Bengü Tuman, Murat Şereflican, Sıddıka Halıcıoğlu, Gülzade Özyalvaçlı, Seval Bayrak
Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The diagnosis is based on major and minor clinical and radiologic criteria. Early diagnosis and treatment are of utmost importance in reducing the severity of long-term sequelae of this syndrome...
September 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28951717/basal-cell-nevus-syndrome-gorlin-goltz-syndrome-genetic-predisposition-clinical-picture-and-treatment
#3
Henryk Witmanowski, Paweł Szychta, Katarzyna Błochowiak, Arkadiusz Jundziłł, Rafał Czajkowski
No abstract text is available yet for this article.
August 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28865507/-gorlin-goltz-syndrome-diagnosis-and-treatment-options
#4
João Mendes-Abreu, Miguel Pinto-Gouveia, Cátia Tavares-Ferreira, Ana Brinca, Ricardo Vieira
The Gorlin-Goltz syndrome is a rare autosomal dominant hereditary condition, with complete penetrance and variable expressivity. Characterized by the appearance of multiple basaliomas, and often the development of keratocyst, it can also express itself by the presence of palmar/plantar depressions, calcification of brain sickle, and skeletal birth defects, although less frequently. This article presents two cases involving direct relatives, referred after the identification of several basaliomas and jaw cysts...
May 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28819517/dental-dermatological-and-radiographic-findings-in-a-case-of-gorlin-goltz-syndrome-report-and-review
#5
REVIEW
Kumar Nilesh, Shivsagar Tewary, Sameer Zope, Jinesh Patel, Aaditee Vande
Gorlin-Goltz syndrome (GGS) is a rare autosomal dominant disorder. The disease shows multiple organ involvement with variable clinical presentation. Thus a multidisciplinary approach is required for its prompt clinical diagnosis and management of this condition. This paper highlights a case of GGS presenting in a young male patient with cranial, facial, dermatological, dental and skeletal involvement. The diagnosis of the syndrome was based on its clinical presentation, radiological features and histopathological findings...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28713753/removal-of-multiple-keratocystic-odontogenic-tumors-in-a-nonsyndromic-patient
#6
Artur Cunha Vasconcelos, Paulo Henrique de Souza Castro, Alvaro Henrique Borges, Luiz Evaristo Ricci Volpato
Multiple keratocystic odontogenic tumors are one of the key features of Gorlin-Goltz syndrome. A 15-year-old nonsyndromic female child presented with multiple keratocystic odontogenic tumors. The presence of the tumors was observed in immunological examinations. The images led to the suspicion of Gorlin-Goltz syndrome which was discarded after analyzing the patient's medical history and complementary examinations. Le Fort I osteotomy was opted to access the maxillary tumors favoring visibility and allowing simultaneous bilateral accesses...
January 2017: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/28616153/a-multidisciplinary-approach-to-the-successful-management-of-gorlin-syndrome
#7
Ryan N Mello, Zaki Khan, Umar Choudry
Gorlin-Goltz syndrome (GGS) is a rare genetic syndrome with variable expressivity and autosomal dominant inheritance. The major features of GGS include numerous basal cell carcinomas (BCCs), keratocysts of the jaw, palmar/plantar pits and calcification of the falx cerebri. Authors report the case of a 51-year-old male with a 19-year history of GGS and multiple BCCs of the head and neck. He presented with a large ulcerating lesion on the right side of his face involving cutaneous, subcutaneous and muscular tissues of the temporal and orbital region...
June 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28193761/teaching-neuroimages-clinical-and-neuroimaging-features-in-gorlin-goltz-syndrome
#8
Giuliano da Paz Oliveira, Nara Lívia Rezende Soares, Ricardo Lira Araújo, Lívia Almeida Dutra, José Luiz Pedroso, Orlando G P Barsottini
No abstract text is available yet for this article.
February 14, 2017: Neurology
https://www.readbyqxmd.com/read/27974011/use-of-anteromedial-thigh-perforator-flap-and-immunological-implications-of-gorlin-goltz-syndrome-a-case-study
#9
A Scalise, R Calamita, C Tartaglione, E Bolletta, G Di Benedetto, M Pierangeli
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. He had recurrent BCCs on a hairless scalp and dorsum since he was 17 years old and underwent four surgical procedures to excise BCCs, including a reconstruction with anteromedial thigh perforator flap...
December 2, 2016: Journal of Wound Care
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
#10
Milan Hubacek, Tereza Kripnerova, Michaela Nemcikova, Anna Krepelová, Alena Puchmajerova, Marcela Malikova, Markéta Havlovicová, Jana Cadova, Roman Kodet, Milan Macek, Tatjana Dostalova
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 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27843260/gorlin-goltz-syndrome-a-rare-case-report-of-a-11-year-old-child
#11
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
#12
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...
April 2017: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27579759/syndrome-in-question-gorlin-goltz-syndrome
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
REVIEW
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...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27341828/-focal-dermal-hypoplasia-goltz-gorlin-syndrome-the-cause-is-now-known
#20
K A Giehl
No abstract text is available yet for this article.
July 2016: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
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