The Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare cause of persisting gastrointestinal bleeding. We are presenting a case which was associated with an atrial septal defect.
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http://dx.doi.org/10.7860/JCDR/2012/4197.2564 | DOI Listing |
Front Pediatr
January 2025
Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare venous malformation disorder. Currently, there is no standard therapy for this disease. However, lauromacrogol, a sclerosant extensively utilized in the management of vascular malformations, has been applied in the treatment of BRBNS.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Dermatology and Venereology, Faculty of Medicine, University of Aleppo, Aleppo, Syria.
Background: Basal cell nevus syndrome, also known as Gorlin or Gorlin-Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. Diagnosis is based on specific criteria, and treatment typically includes surgical removal of basal cell carcinomas.
View Article and Find Full Text PDFClin Exp Dermatol
January 2025
Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Front Pediatr
December 2024
Department of Ultrasound, Jinan Maternity and Child Care Hospital, Jinan, Shandong, China.
Congenital melanocytic nevus (CMN) syndrome is a rare, non-familial neural ectodermal dysplasia characterized by CMN combined with extracutaneous abnormalities, predominantly involving the central nervous system (CNS). The pathogenesis of CMN syndrome is thought to result from early post-zygotic somatic mutations. CNS melanosis frequently affects the anterior temporal lobes, brainstem, cerebellum, and cerebral cortex.
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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