Multiple hereditary exostoses (MHE), also known as multiple osteochondromas, is an autosomal dominant disease that results in the development of osteochondromas throughout the body. The disease typically is diagnosed during childhood and requires lifelong monitoring and treatment of painful osteochondromas. Individuals with MHE must be monitored for complications that can arise and the potential malignant transformation of an osteochondroma into a chondrosarcoma. This article discusses the basic characteristics of MHE, genetic links, the role of medical imaging in diagnosis, and treatment options.
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J 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 PDFHered Cancer Clin Pract
January 2025
Division of Cancer and Genetics, Cardiff University School of Medicine, Heath Park, Cardiff, CF14 4XN, UK.
Carcinogenesis encompasses processes that lead to increased mutation rates, enhanced cellular division (tumour growth), and invasive growth. Colorectal cancer (CRC) carcinogenesis in carriers of pathogenic APC (path_APC) and pathogenic mismatch repair gene (path_MMR) variants is initiated by a second hit affecting the corresponding wild-type allele. In path_APC carriers, second hits result in the development of multiple adenomas, with CRC typically emerging after an additional 20 years.
View Article and Find Full Text PDFESMO Open
January 2025
Department of Biomedicine, Neuroscience and Advanced Diagnostics (Bind.), Section of Medical Oncology, University of Palermo, Palermo, Italy.
Background: Germline pathogenic variants (gPVs) in the breast cancer susceptibility gene 1/2 (BRCA1/2) genes confer high-penetrance susceptibility to breast cancer (BC) and ovarian cancer (OC). Although most female BRCA carriers develop only a single BRCA-associated tumor in their lifetime, a smaller subpopulation is diagnosed with multiple primary tumors (MPTs). The genetic factors influencing this risk remain unclear.
View Article and Find Full Text PDFFront Oncol
January 2025
Endocrinology Unit, Garibaldi-Nesima Hospital, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy.
Background: Multiple endocrine neoplasia type 2 syndrome (MEN2) is a hereditary disease resulting from mutations of the rearranged during transfection (RET) protooncogene subclassified into MEN2A [medullary thyroid carcinoma (MTC), pheochromocytoma, and primary hyperparathyroidism] and MEN2B (MTC, pheochromocytoma, Marfanoid habitus, mucous neuromas, and intestinal ganglioneuromatosis). Prophylactic thyroidectomy is recommended in RET-mutated patients. The age at which it should be performed depends on the type and aggressiveness of the mutation.
View Article and Find Full Text PDFCureus
December 2024
General Surgery, King Saud Medical City, Riyadh, SAU.
Angiodysplasia is one of the causes of recurrent episodes of lower gastrointestinal (GI) bleeding. Angiodysplasia could be associated with few lesions or multiple diffuse lesions, causing diversity in the clinical presentation of such patients. We report a case of a 19-year-old male presenting with life-threatening gastrointestinal bleeding due to diffuse angiodysplasia of the bowel extending from the jejunum to the sigmoid colon and requiring multiple investigations and management.
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