Results 51 to 60 of about 1,019 (146)

Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series

Journal of Cutaneous Pathology, Volume 51, Issue 12, Page 980-986, December 2024.
Abstract Background One of the hereditary syndromes associated with multiple early‐onset basal cell carcinomas (BCCs) is basal cell nevus syndrome (BCNS), of which a minority is caused by germline SUFU mutations. Germline SUFU mutations show a spectrum of phenotypes, of which multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC ...
Mashiro van Dal, Sanne R. Martens‐de Kemp, Antien L. Mooyaart, Walter Voogt, Marlies Wakkee, Jeffrey Damman   +5 more
wiley   +1 more source

Gorlin Goltz syndrome: A clinicopathological case report

Journal of Indian Academy of Oral Medicine and Radiology, 2014
The Gorlin-Goltz syndrome is an infrequent multisystemic disease, which is inherited in an autosomal dominant manner. This shows a high level of penetrance and variable expressiveness, characterized by multiple basal cell nevi or carcinomas, odontogenic ...
Shobha C Bijjaragi, Ashwinirani Suragimath, Varsha Ajit Sangle, Veerendra S Patil   +3 more
doaj   +1 more source

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report

Pediatric Dermatology, Volume 41, Issue 6, Page 1106-1113, November/December 2024.
ABSTRACT Background Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare ectodermal dysplasia that primarily affects the skin, skeleton, and eyes. It is an X‐linked dominant disorder, predominantly seen in females, caused by pathogenic variants in PORCN. Methods We characterized a case series of four genetically confirmed FDH patients
Laura Krogh Herlin, Morten Krogh Herlin, Hanne Vinter, Jenny Blechingberg, Brian Nauheimer Andersen, Casper Kruse, Mette Sommerlund   +6 more
wiley   +1 more source

Youngest Encounter with Gorlin–Goltz Syndrome: Navigating Early Diagnosis and Management

Indian Journal of Paediatric Dermatology
Gorlin–Goltz syndrome is a rare autosomal dominant disorder caused by an inactivating mutation of the patched 1 gene. Patients could present as early as infancy with varied presentation and multiple basal cell carcinoma.
Adarsh Vijayakumar, Rashmi Mary Philip, Sebastian Criton   +2 more
doaj   +1 more source

Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review

American Journal of Medical Genetics Part A, Volume 194, Issue 6, June 2024.
Abstract In 2002, heterozygous suppressor of fused variants (SUFU+/−) in the germline were described to have a tumor suppressor role in the development of pediatric medulloblastoma (MB). Other neoplasms associated with pathologic germline SUFU+/− variants have also been described among patients with basal cell nevus syndrome (BCNS; BCNS is also known ...
Stephanie G. Lee, Gareth Evans, Maddie Stephen, Rachel Goren, Melissa Bondy, Steven Goodman   +5 more
wiley   +1 more source

Neglected Fungating Giant basal cell carcinoma: A case report and literature review

Clinical Case Reports, Volume 12, Issue 4, April 2024.
Key Clinical Message Gaint fungating BCC is rare and aggressive. Early health‐seeking behavior may result in positive outcomes. Abstract Fungating giant basal cell carcinoma (BCC) is a rare and aggressive form of BCC infrequently reported in the literature. We present a giant BCC case in an old female from a rural area with a poor socioeconomic profile.
Susmin Karki, Asmita Parajuli, Bhawesh Bhattarai, Khusbu Kumari, Kayleigh Anjali Harrylal, Pramish Bhatta, Milan K. C., Samit Sharma   +7 more
wiley   +1 more source

Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report

Journal of Medical Case Reports
Background Basal cell nevus syndrome, also known as Gorlin or Gorlin–Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene.
Noura Abdul Rahman, Fatima Breim, Joud Zakour, Zainab Srouji, Silva Ishkhanian   +4 more
doaj   +1 more source

Gorlin-Goltz Syndrome: Case Report of a Rare Hereditary Disorder

Case Reports in Dentistry, 2012
Introduction. Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. Case Report.
Ashutosh Agrawal, Aditi Murari, Sunil Vutukuri, Arun Singh   +3 more
doaj   +1 more source

Basal Cell Nevus Syndrome Treated With Laser Therapy: Novel Approach for Young Adults

International Journal of Dermatology, Volume 65, Issue 2, Page 362-364, February 2026.
Giulia Briatico, Camila Scharf, Eugenia Veronica Di Brizzi, Gabriella Brancaccio, Nikola Drmac   +4 more
wiley   +1 more source

Gorlin-Goltz syndrome

Journal of Dr. NTR University of Health Sciences, 2013
Gorlin-Goltz syndrome is an inherited autosomal dominant disorder characterized by the presence of multiple odontogenic keratocysts of jaws, basal cell carcinomas, palmar, plantar pits and intracranial calcifications. Apart from these many dental, skeletal, ophthalmic and neurological abnormalities have been reported.
Shyam N. Sunder, Suresh Babburi, Srikanth Guduguntla, P. S. Raju   +3 more
openaire   +1 more source