We describe the case of a 3-week-old boy showing telangiectasias on the abdominal skin since 2 weeks. His medical (family) history and an abdominal echo showed no abnormalities. The diagnosis Transient Abdominal Telangiectasia of the Newborn was made.
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Cureus
December 2024
Hepatology, Tokyo Metropolitan Cancer and Infectious Diseases Center, Komagome Hospital, Tokyo, JPN.
This case report discusses the case of a 74-year-old man who was diagnosed with hereditary hemorrhagic telangiectasia (HHT). The patient initially presented with right upper quadrant abdominal pain and was later diagnosed with cholangitis. Subsequently, heart failure was identified due to hepatic arteriovenous malformations.
View Article and Find Full Text PDFWorld J Pediatr
December 2024
Pediatrics and Adolescent Medicine, Faculty of Medicine, University of Augsburg, 86156, Augsburg, Germany.
Purpose: Cancer predisposition syndromes are genetic disorders that significantly raise the risk of developing malignancies. Although the malignant manifestations of cancer predisposition syndromes are well-studied, recognizing their non-malignant features is crucial for early diagnosis, especially in children and adolescents.
Methods: A comprehensive literature search was conducted using the PubMed database, focusing on non-malignant manifestations of cancer predisposition syndromes in children and adolescents.
J Clin Med
November 2024
Department of Digestive Surgery and Emergency Surgery, Edouard Herriot Hospital, Hospices Civils de Lyon, 69002 Lyon, France.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal blood vessel formation, leading to recurrent epistaxis, cutaneous and mucosal telangiectases, and visceral arteriovenous malformations (AVMs). Hepatic involvement may result in complications such as high-output heart failure, portal hypertension, and biliary ischemia. We report an uncommon case of ischemic cholecystitis in a patient with HHT.
View Article and Find Full Text PDFMol Med
November 2024
Suzhou Key Laboratory for Radiation Oncology, Department of Radiotherapy and Oncology, The Second Affiliated Hospital of Soochow University, Suzhou, 215004, China.
Background: Radiation-induced intestinal injury (RIII) interrupts the scheduled processes of abdominal and pelvic radiotherapy (RT) and compromises the quality of life of cancer survivors. However, the specific regulators and mechanisms underlying the effects of RIII remain unknown. The biological effects of RT are caused primarily by DNA damage, and ataxia telangiectasia mutated (ATM) is a core protein of the DNA damage response (DDR).
View Article and Find Full Text PDFCureus
September 2024
Department of General and Clinical Pathology, Forensic Medicine and Deontology, Dr. Marko Markov Specialized Hospital for Treatment of Oncological Diseases, Varna, BGR.
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