This report describes a family with hereditary hyperferritinemia cataract syndrome. Inheritance is autosomal dominant and clinical characteristics of this syndrome are familial cataracts of early development and elevated serum ferritin levels but otherwise normal iron studies and haematological parameters. It is important to increase awareness of this entity in order to diagnose new cases and avoid unnecessary diagnostic tests and inadequate treatments.
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http://dx.doi.org/10.23938/ASSN.0214 | DOI Listing |
Cureus
December 2024
Gastrointestinal Bleeding Center, Cleriston Andrade General Hospital, Feira de Santana, BRA.
Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease characterized by the progressive development of multiple adenomatous polyps along the colon. The majority of individuals develop colorectal cancer by the age of 40 within the evolutionary course of the disease. For this reason, screening family members is essential to enable identification, surveillance, and appropriate intervention.
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December 2024
Internal Medicine, University of Florida College of Medicine, Pensacola, USA.
Extra-adrenal pheochromocytomas are rare neuroendocrine tumors originating outside the adrenal glands and can pose significant diagnostic challenges due to their variable presentations. This report highlights a case of an extra-adrenal pheochromocytoma masquerading as a pancreatic head malignancy. We underscore the importance of considering extra-adrenal pheochromocytoma in the differential diagnosis of pancreatic masses, particularly when biochemical or clinical features suggest catecholamine excess.
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December 2024
Pediatric Cardiology, Centro Hospitalar Lisboa Central, Unidade Local de Saúde de São José, Lisbon, PRT.
Long QT Syndrome (LQTS) is a rare hereditary canalopathy, characterized by prolonged ventricular repolarization, which can lead to malignant tachyarrhythmias at a young age. Treatment typically involves healthy lifestyle changes and β-blocker therapy. In specific cases, the implantation of an implantable cardioverter defibrillator (ICD) can be an option.
View Article and Find Full Text PDFJCEM Case Rep
February 2025
Endocrinology and Diabetes Center, Yokohama Rosai Hospital, Yokohama 222-0036, Japan.
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare hereditary disorder caused by pathogenic gene variants. We report the case of a patient with HPT-JT who carried a novel germline pathogenic variant. A 27-year-old woman presented with thirst, polyuria, fatigue, constipation, and a history of fibro-osseous mandible lesions and endometrial polyps.
View Article and Find Full Text PDFActa Clin Croat
December 2023
Department of Ophthalmology, Sestre milosrdnice University Hospital Center, Zagreb, Croatia.
Muir-Torre syndrome is a rare form of hereditary nonpolyposis colorectal cancer syndrome; simplified, it is an association of at least one sebaceous skin tumor and at least one visceral malignancy. It follows an autosomal dominant pattern of inheritance. We present a case of a recurrent sebaceous carcinoma of the eyelid in a patient previously operated on for colorectal carcinoma.
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