Gorlin Syndrome
Mostrando 1-12 de 18 artigos, teses e dissertações.
-
1. Basaloid follicular hamartoma associated with follicular mucinosis and inflammation
Abstract Basaloid follicular hamartoma is a benign, superficial malformation of hair follicles that can be mistaken both clinical and histopathologically for basal cell carcinoma. Basaloid follicular hamartoma has been linked to a mutation in the PTCH-1 gene, which is part of the same pathway involved in Gorlin-Goltz syndrome. Here we present a 9-year-old pa
Anais Brasileiros de Dermatologia. Publicado em: 2022
-
2. Analysis of GLUT-1, GLUT-3, and angiogenic index in syndromic and non-syndromic keratocystic odontogenic tumors
Abstract 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,
Braz. oral res.. Publicado em: 27/04/2017
-
3. Syndrome in question: Gorlin-Goltz syndrome
Abstract: 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 standard
An. Bras. Dermatol.. Publicado em: 2016-08
-
4. Phenotypic spectrum of a patient with Gorlin’s syndrome and role of dermoscopy in the early detection of basal cell carcinomas
Abstract Gorlin's syndrome is an autosomal dominant disorder, mainly characterized by the presence of multiple and early-onset basal cell carcinomas, odontogenic keratocysts and palmoplantar pits. We describe the case of a patient with clinical and imaging features of Gorlin syndrome, and highlight the role of dermoscopy in the early detection of basal cell
An. Bras. Dermatol.. Publicado em: 2015-06
-
5. Avaliação dos parâmetros clínico, histopatológico e imunoistoquímico dos tumores odontogênicos queratocísticos associados ou não à Síndrome do Carcinoma basocelular nevóide / Evaluation of clinical, histopathological and immunohistochemistry parameters of Keratocystic Odontogenic Tumor associated or not with Nevoid Basal Cell Carcinoma Syndrome
Introdução. O Tumor Odontogênico Queratocístico (TOQC) é uma lesão de origem odontogênica que se apresenta exclusivamente nos ossos gnáticos e possui alto potencial de agressividade local. Pode estar associado à Síndrome do Carcinoma Nevóide Basocelular (SCNBC), que se caracteriza por apresentar inúmeras alterações de desenvolvimento, múltiplo
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 05/10/2011
-
6. Estudo da imunoexpressão de RANKL e OPG, do índice angiogênico (CD34) e da presença de miofibroblastos (α-SMA) em ceratocistos odontogênicos isolados e associados à síndrome de Gorlin / Estudo da imunoexpressão de RANKL e OPG, do índice angiogênico (CD34) e da presença de miofibroblastos (α-SMA) em ceratocistos odontogênicos isolados e associados à síndrome de Gorlin
Os ceratocistos odontogênicos se destacam em relação a outras lesões císticas odontogênicas pelo comportamento clínico potencialmente agressivo e por se apresentarem associados, em alguns casos, à síndrome de Gorlin. Estudos têm sugerido que os ceratocistos sindrômicos, em comparação às lesões isoladas, possuem maior capacidade de crescimento
Publicado em: 2010
-
7. Clinical and PTCH1 gene mutations studies in patients bearing multiple familiar non-syndromic basal cell carcinomas / Estudo clínico e de mutações no gene PTCH1 em pacientes portadores de carcinomas basocelulares múltiplos familiares não sindrômicos
INTRODUCTION: Basal cell carcinomas (BCC) are the most usual skin cancer that affects human beings. Sporadic BCCs are prevalent, often arising in people chronically exposed to UV radiation from the sun. Eventually BCCs may be associated to different syndroms like Bazex-Dupré-Christol, Rambo and Gorlin. Contrarily to syndromic BCCs, the cases of multiple fam
Publicado em: 2010
-
8. Goldenhar's syndrome: case report
A Síndrome de Goldenhar é uma condição rara que foi descrita inicialmente em 1952 como uma combinação de anomalias que incluíam tumores dermóides epibulbares, apêndices auriculares e mal-formações da orelha. Em 1963, Gorlin sugeriu o termo displasia Oculo-Auriculo-Vertebral (OAV) incluindo anomalias vertebrais nesta entidade clínica. A sua etiolo
Brazilian Dental Journal. Publicado em: 2003-06
-
9. Congenital trigeminal neuropathy in oculoauriculovertebral dysplasia-hemifacial microsomia (Goldenhar-Gorlin syndrome).
A 2 1/2 year old child with clinical features of Goldenhar-Gorlin syndrome showed diminished pinprick sensation over the right half of the face. After surgery for the cleft lip, the child died. Neuropathological investigations showed agenesis of the right trigeminal nerve and hypoplasia of the right trigeminal brain-stem nuclei. Nosological aspects of the Go
-
10. Gorlin syndrome associated with midline nasal dermoid cyst.
Gorlin syndrome is an autosomal dominant multisystem disorder characterised by multiple basal cell naevi, cysts of the jaw, pits of the palms and soles, skeletal anomalies, and various other defects. Patients with Gorlin syndrome have a predisposition to basal cell carcinomas and other neoplasms. This is the first report to describe the coexistence of Gorlin
-
11. Microphthalmos in association with Gorlin's syndrome.
-
12. Microtia, absent patellae, short stature, micrognathia syndrome.