Basal cell nevus syndrome (aka Gorlin syndrome, Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, and fifth phacomatosis) is a rare but well-described autosomal dominant condition with variable penetrance. We present a female patient who has been successfully treated using local surgical excision and diligent skin surveillance for more than 4 decades, demonstrating that simple local incision is an efficacious and reasonable surgical alternative that may circumvent the specialization and expense of Mohs technique.
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http://dx.doi.org/10.1097/SAP.0000000000000052 | DOI Listing |
Anesth Analg
September 2024
From the Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Phoenix, Arizona.
Background: During orthotopic liver transplantation, allograft reperfusion is a dynamic point in the operation and often requires vasoactive medications and blood transfusions. Normothermic machine perfusion (NMP) of liver allografts has emerged to increase the number of transplantable organs and may have utility during donation after circulatory death (DCD) liver transplantation in reducing transfusion burden and vasoactive medication requirements.
Methods: This is a single-center retrospective study involving 226 DCD liver transplant recipients who received an allograft transported with NMP (DCD-NMP group) or with static cold storage (DCD-SCS group).
Orphanet J Rare Dis
December 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Meier-Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. Additionally, whether growth hormone (GH) treatment can increase the height of children with MGORS is unclear.
View Article and Find Full Text PDFF S Rep
December 2024
Division of Gynecology, Department of Surgery, Boston Children's Hospital, Boston, Massachusetts.
Objective: To characterize the presentation and surgical management of ovarian fibromas among a case series of pediatric and adolescent patients with Gorlin syndrome.
Design: Retrospective case series.
Setting: Tertiary-care hospital.
World J Exp Med
December 2024
Department of Diagnosis in Pathology and Oral Medicine, Faculty of Dentistry, Universidad de la República, Montevideo 1600, Uruguay.
The association between genetic syndromes and odontogenic tumors encompasses several entities, reflecting the intricate interplay between genetic factors and the development of these lesions. The present study aimed to comprehensively investigate the associations between genetic syndromes and odontogenic tumors. We delineated the diverse spectrum of syndromic connections, including key syndromes such as Gardner syndrome, Gorlin syndrome, Schimmelpenning syndrome, and others.
View Article and Find Full Text PDFOral Radiol
December 2024
Department of Radiology, Nihon University School of Dentistry at Matsudo, 2-870-1 Sakaecho-Nishi, Matsudo, Chiba, 271-8587, Japan.
Purpose: This study aimed to evaluate odontogenic keratocysts associated with basal cell nevus syndrome (BCNS) using computed tomography (CT) and magnetic resornance imaging (MRI) including diffusion-weighted imaging (DWI) and compare them with sporadic cases.
Materials And Methods: This study investigated 17 outpatients who underwent panoramic radiography, CT, and MRI between August 2012 and January 2021. Five of these patients had BCNS had 16 odontogenic keratocysts, for which the authors recorded detailed findings.
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