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Total 794 results found since Jan 2013.
Gorlin Syndrome and Cowden Syndrome
Keio J Med. 2023 Aug 10. doi: 10.2302/kjm.2023-0010-IR. Online ahead of print.ABSTRACTGorlin syndrome and Cowden syndrome are hereditary diseases that are characterized by multiple malignancies, cutaneous symptoms, and various other abnormalities. Both disorders are caused by a mutation of the gene that regulates cell proliferation and growth, resulting in tumorigenesis. Representative mutations are mutation in the patched 1 gene (PTCH1) in Gorlin syndrome and mutation in the phosphatase and tensin homolog deleted from chromosome 10 (PTEN) gene in Cowden syndrome. Making a diagnosis of these diseases in the early years of ...
Source: The Keio Journal of Medicine - August 9, 2023 Category: Universities & Medical Training Authors: Hiroyuki Goto Chiharu Tateishi Daisuke Tsuruta Source Type: research
Brain and/or Spinal Cord Tumors Accompanied with Other Diseases or Syndromes
Adv Exp Med Biol. 2023;1405:645-672. doi: 10.1007/978-3-031-23705-8_25.ABSTRACTSeveral medical conditions that interest both the brain and the spinal cord have been described throughout the history of medicine. Formerly grouped under the term Phacomatosis because lesions of the eye were frequently encountered or genodermatosis when typical skin lesions were present, these terms have been progressively discarded. Although originally reported centuries ago, they still represent a challenge for their complexity of cure. Nowadays, with the introduction of advanced genetics and the consequent opportunity of whole-genome sequenc...
Source: Advances in Experimental Medicine and Biology - July 15, 2023 Category: Research Authors: Jody Filippo Capitanio Pietro Mortini Source Type: research
Siblings with Gorlin –Goltz syndrome associated with cardiac tumors: a case report and review of literature
Primary cardiac tumors in children are very rare and may be associated with severe arrhythmias and sudden infant death syndrome. These cardiac arrhythmias vary depending on the location and size of the tumor. ...
Source: Orphanet Journal of Rare Diseases - July 5, 2023 Category: Internal Medicine Authors: Paula I. Wilke, Daniel Biermann, Maria Grafmann, Rainer Kozlik-Feldmann, Dzhoy Papingi, J örg S. Sachweh, Fridrike Stute and Jakob Olfe Tags: Review Source Type: research
Gorlin cyst with atypical presentation: a case report
A partially edentulous 56-year-old woman presented an asymptomatic and slow growing swelling in the left posterior maxillary alveolar ridge. Examination of a panoramic X-ray showed a multilocular mixed radiolucent lesion exhibiting radiopaque structures and poorly defined borders. A hypothesis of odontogenic cyst X odontogenic tumor was formulated, and an excisional biopsy followed by curettage were performed. The histopathologic analysis revealed a connective tissue fibrous capsule lined by odontogenic epithelium characterized by columnar cells resembling ameloblasts and with the presence of ghost cells and areas showing ...
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - June 15, 2023 Category: ENT & OMF Authors: Analigia Fernandes de OLIVEIRA, Ana Claudia Garcia ROSA, Lucas Novaes TEIXEIRA, Elizabeth Ferreira MARTINEZ, Andresa Borges SOARES, Fabricio Passador-SANTOS Source Type: research
Diagnosis of gorlin-goltz syndrome: clincial case report
The diagnosis of Gorlin-Goltz syndrome involves clinical, radiographic, and histopathological aspects. Computed tomography contributes to the evaluation of the characteristics, to the extension of cystic lesions, and to the diagnosis of signs, such as calcifications in the falx cerebri. A 22-year-old male presented a complaint of halitosis. Upon extraoral examination, a slight increase in volume in the lower third of the right face, suggestive of a cystic lesion in the soft tissue, and a scar on the skin of the nasolabial region, were noted.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - June 15, 2023 Category: ENT & OMF Authors: Thiago Henrique Gon çalves MOREIRA, Regina Garcia DORTA, Mariana Quirino Silveira SOARES, Renata Hinhug Vilarinho CURADO, Daniela Carvalho TOSIN, José Luiz Cintra JUNQUEIRA, Vera Cavalcanti de ARAÚJO Source Type: research
Calcifying odontogenic cyst: 3-year follow-up in a child patient
Calcifying odontogenic cyst (COC) is a development cyst and was first described in 1962 by Gorlin. It is characterized by odontogenic epithelial lining containing calcifications and focal ghost cells. Our study presents a case of an 11-year-old patient who presented an asymptomatic swelling on the right anterior maxilla, with elevation of the ala of the nose for 4 months. Intraoral examination revealed a swelling of the vestibular sulcus and persistence of the temporary lateral incisor. Computed tomography presented a well-defined hypodense image associated with an unerupted tooth.
Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - June 15, 2023 Category: ENT & OMF Authors: Maria Em ília Mota Galdino FERREIRA, Saygo TOMO, Osias Vieira de OLIVEIRA-FILHO, Leticia Beatriz da Cruz SANTOS, Rodrigo Nascimento LOPES, Fábio de Abreu ALVES, André Caroli ROCHA Source Type: research
Nevoid Basal Cell Carcinomas in Gorlin Syndrome
Conditions: Basal Cell Carcinoma; Gorlin Syndrome Intervention: Other: Active surveillance Sponsor: Oslo University Hospital Enrolling by invitation
Source: ClinicalTrials.gov - June 12, 2023 Category: Research Source Type: clinical trials
