A 6-year-old boy with Bannayan-Riley-Ruvalcaba syndrome (BRRS) presented to the emergency department with periumbilical abdominal pain for 12 h. A contrast-enhanced abdominal and pelvis CT examination revealed significant interval change in the size and appearance of a previously seen hypoattenuating right mesocolic fatty mass suggestive for lipoma, first observed 5 months prior. This lesion demonstrated new enhancing internal septations, a thickened capsule, interval development of adjacent mesenteric fat stranding and engorgement of the mesenteric vessels. Given the short follow-up interval and acute clinical presentation, imaging findings were suggestive for torsion. We present this case for the unusual imaging findings as well as to highlight the differential diagnosis for abdominal fat containing lesions by imaging in patients with BRRS and other hamartomatous syndromes.
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http://dx.doi.org/10.1007/s00247-014-3083-0 | DOI Listing |
Am J Case Rep
January 2025
Research Institute of Dentistry, Department of Integral Dental Clinics, University Center of Health Sciences, Universidad de Guadalajara, Guadalajara, Mexico.
BACKGROUND Cowden syndrome is a genetic disorder that predisposes individuals to cancer and is characterized by hamartomas derived from 3 germ layers. Although the clinical signs can be pathognomonic, diagnosis is often aided by biopsies, histopathological examination of oral and cutaneous lesions, and genetic studies, including multiple ligation-dependent probe amplification (MLPA). CASE REPORT We report a case of a 35-year-old woman who manifested with multiple lesions in the buccal mucosa, dorsum of the tongue, and gums, along with papillomatous papules on her facial skin and the dorsal surfaces of her hands.
View Article and Find Full Text PDFMedicine (Baltimore)
December 2024
Department of Neurosurgery, The First Affiliated Hospital of Shihezi University, Shihezi, China.
Rationale: This study aims to present a case of cerebellar dysplastic ganglioneuroma, which is commonly referred to as Lhermitte-Duclos disease (LDD). Furthermore, the study aims to provide an extensive review of the essential aspects of LDD, thereby providing essential information for its accurate diagnosis and effective treatment.
Patient Concerns: A 54-year-old woman was admitted with symptoms of headache, facial numbness, and a visible cerebellar mass.
medRxiv
December 2024
Division of Endocrinology, Diabetes and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Importance: A subset of thyroid cancers develops in a setting of a known hereditary cancer-associated syndrome. Understanding the population prevalence of thyroid cancer-associated syndromes is important to guide germline genetic testing and clinical management.
Objective: To estimate the prevalence of the major thyroid cancer-associated syndromes in the United States using the All of Us Research Program (AoU) data.
J Hum Genet
December 2024
Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
A germline alteration in the PTEN gene causes a spectrum of disorders conceptualized as PTEN hamartoma tumor syndrome (PHTS), which show high risk of tumor development and a highly variable and complex phenotype. The diagnosis of PHTS is established in a proband by identification of a heterozygous germline PTEN pathogenic variant on molecular genetic testing. In this study, to understand more PTEN-associated clinical phenotype and PHTS in a Japanese population, we extracted 128 germline PTEN rare variants from 113,535 adult Japanese registered in Biobank Japan (BBJ), and categorized 29 pathogenic/likely pathogenic variants in 30 individuals (0.
View Article and Find Full Text PDFPathology
February 2025
Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.
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