Results 51 to 60 of about 1,132 (155)
An unusual example of hereditary multiple exostoses: a case report and review of the literature
BMC Musculoskeletal Disorders, 2021 Background Hereditary multiple exostoses (HME) is a rare skeletal disorder characterised by a widespread. distribution of osteochondromas originating from the metaphyses of long bones. Case presentation This case study examines a 55-year-old male cadaver
Rebecca Chilvers +3 more
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Costal exostosis at risk of hepatic injury in a 10-year-old girl
Journal of Pediatric Surgery Case Reports, 2022 Hereditary multiple exostosis (HME) is a rare skeletal genetic disorder with multiple and disseminated osteochondromas. Costal localization is found in 40% of cases.
M. Doan +4 more
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Acral Mesenchymal Spindle Cell Neoplasm With a Novel HMGA2::NCOA2 Fusion
Journal of Cutaneous Pathology, Volume 53, Issue 5, Page 402-406, May 2026.ABSTRACT Molecular profiling has revolutionized the field of soft tissue pathology, enhancing diagnostic precision and treatment strategies. The integration of molecular analysis and immunohistochemistry has been crucial for classifying diagnostically challenging acral mesenchymal neoplasms.
Grace Z. Armstrong +5 more
wiley +1 more source
Physiotherapy Research International, Volume 31, Issue 2, April 2026.ABSTRACT Background and Purpose Cauda Equina Syndrome (CES) is a rare but serious spinal condition requiring urgent diagnosis and management. Physiotherapists in UK musculoskeletal (MSK) services increasingly encounter suspected CES cases, but little is known about their clinical decision‐making and referral practices.
Rob Tyer, Nick Livadas, Robert Hogg
wiley +1 more source
Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
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Congenital multiple exostoses with congenital heart disease
Medical Journal of Dr. D.Y. Patil University, 2017 Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases.
Ibrahim Aliyu, Teslim O Lawal
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Distal femoral osteochondromas in patients with hereditary multiple osteochondromas, a longitudinal radiological assessment. [PDF]
International Journal of Research Studies in Biosciences, 2015 Contains fulltext : 152132.pdf (Publisher’s version ) (Open Access)
Staal, H.M. +7 more
openaire +2 more sources
Clinical Case Reports, Volume 14, Issue 1, January 2026.ABSTRACT Chest‐wall Ewing sarcoma (CWES) is uncommon in adults and often abuts vital thoracic structures, making R0 resection challenging despite gains with multimodal therapy. A 46‐year‐old Arab male presented with year‐long right‐sided chest pain, weight loss, and a firm mass over the lower right ribs.
Mohammad Alaa Aldakak +5 more
wiley +1 more source
Chondrosarcoma in Metachondromatosis: A Rare Case Report
Acta Medica Iranica, 2018 Metachondromatosis which was first described in 1971 by Maroteaux is a rare genetic disease consisting of osteochondromas and enchondromas, caused by loss of function of the PTPN11 gene.
Khodamorad Jamshidi +2 more
doaj
Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.The glomus tumor (GT) is a rare benign neoplasm, generally located in the subungual region of the distal phalanx of the fingers as a single nodule. While approximately 90% of digital GTs are correctly diagnosed (pain, cold sensitivity, and point tenderness), extradigital forms often present with silent or atypical features, complicating diagnosis.
Giulia De Marco +6 more
wiley +1 more source