We describe a new variant of congenital hypertrichosis, primary multifocal localized hypertrichosis in a mother and her son. They presented with long vellus hair on the trunk and arms in foci from birth. They also associated some forms of hair dysplasia.
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ARMC5 mutations in primary bilateral macronodular adrenal hyperplasia: a family case report.
BMC Med Genomics
March 2025
Department of Urology, The First Hospital of Shanxi Medical University, Taiyuan, China.
Background: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of overt Cushing's syndrome (CS), which usually manifests as bilateral macronodular adrenal nodules and varying levels of cortisol secretion. Previous studies have shown that ARMC5 play a huge role in the occurrence of PBMAH, which may be inherited to family members and lead to more severe clinical symptoms. ARMC5 variants may be associated with meningiomas, which is also illustrated by our report.
View Article and Find Full Text PDFA rare unifocal gastric gastrointestinal stromal tumor in a young NF1 patient: A case report.
Int J Surg Case Rep
March 2025
Department of Surgery, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India.
Introduction And Importance: Gastrointestinal stromal tumors (GISTs) are the most prevalent mesenchymal neoplasms of the gastrointestinal tract, predominantly associated with mutations in the KIT and PDGFRA genes. Neurofibromatosis type 1 (NF1) increases the risk of developing GISTs, particularly in younger individuals, and often presents with atypical features.
Case Presentation: A 16-year-old female with a known diagnosis of NF1 presented with severe anemia, hematemesis, and melena.
Morphological and molecular characterization of Crassicauda anthonyi in Cuvier's beaked whales from the Canary Islands.
BMC Vet Res
March 2025
Veterinary Histology and Pathology, Atlantic Center for Cetacean Research, Veterinary School, University Institute for Animal Health and Food Safety (IUSA), University of Las Palmas de Gran Canaria (ULPGC), Transmontaña S/N, Arucas, Canary Island, 35413, Spain.
Cuvier's beaked whale (CBW) (Ziphius cavirostris) is a cosmopolitan species known for its remarkable diving capabilities and is widely distributed across most seas and oceans, including the waters surrounding the Canary Islands. This species frequently exhibits a high prevalence of parasitism by the nematode Crassicauda spp., which affects the kidney, urinary tract, and arterial walls via larval migration, and is considered one of the primary natural causes of mortality among CBWs in the Canary archipelago.
View Article and Find Full Text PDFGranulomatous liver disease in Thailand: a 20-year retrospective clinicoradiopathological analysis.
BMJ Open Gastroenterol
March 2025
Gastroenterology and Hepatology Unit, Division of internal Medicine, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand
Objective: Granulomatous liver disease (GLD) is a rare condition with various aetiologies and is characterised by the formation of hepatic granulomas. A comprehensive evaluation of GLD from a broad perspective is lacking. We aimed to investigate the aetiology and the clinicoradiopathological characteristics of patients with GLD in recent decades in Thailand.
View Article and Find Full Text PDFPromoting Oncological Safety: Extreme Oncoplasty as an Alternative to Mastectomy-Insights From a Single-Center Experience in Low and Middle-Income Country.
World J Surg
March 2025
Department of Breast Surgery, Aga Khan University Hospital, Karachi, Pakistan.
Background: Extreme oncoplastic breast-conserving surgery (eOBCS), euphemism for radical conservation, expands the indications of breast conservation for tumor that typically requires a mastectomy. Existing data show no discernible survival differences between mastectomy and breast-conserving surgery; however, limited evidence exists regarding local recurrences between these groups. We report the oncological outcomes of eOBCS in terms of margin safety and disease recurrence at our institute.
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