Hereditary metabolic bone diseases: a review of pathogenesis, diagnosis and management

N Charoenngam, A Nasr, A Shirvani, MF Holick - Genes, 2022 - mdpi.com
Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal
homeostasis and encompass one of the most diverse groups among rare diseases. In this …

A focus on melorheostosis disease: a literature review and case report of femoral-acetabular impingement due to melorheostosis treated with surgical hip osteoplasty

M Ruggiero, A Conforti, A Culcasi, C Mazzanti… - Reumatismo, 2024 - reumatismo.org
Objective. Melorheostosis is a rare, non-hereditary, benign bone disease characterized by
abnormal bone growth. Generally, melorheostosis develops during childhood or …

Aneurysmal bone cyst-like changes developed in melorheostosis with epiphyseal osteopoikilosis

P Spinnato, M Colangeli, E Pedrini, A Parmeggiani… - Skeletal Radiology, 2024 - Springer
Aneurysmal bone cyst (ABC) is a rare and usually painful condition, representing about 1%
of all bone tumors. A geographical lytic, expansile, and septated radiological pattern, with …

Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one case

X Han, Y Xu, Z Wei, C Wang, H Yue… - Molecular Genetics & …, 2022 - Wiley Online Library
Background Melorheostosis (MEL) is an exceptionally rare sclerosing bone dysplasia with
asymmetrically exuberant bone formation and soft tissue lesions in a segmental distribution …

Familiar osteopoikilosis: Case report with differential diagnosis and review of the literature

A Gaudio, A Xourafa, R Rapisarda… - Clinical Case …, 2021 - Wiley Online Library
Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by
heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar …

[HTML][HTML] Melorheostosis of the Fossa Intercondylaris Femoris–A Case Report and Review of the Literature

H Ahrens, C Theil, G Gosheger, S Mühl… - … of Orthopaedic Case …, 2021 - ncbi.nlm.nih.gov
Melorheostosis of the Fossa Intercondylaris Femoris – A Case Report and Review of the
Literature - PMC Back to Top Skip to main content NIH NLM Logo Access keys NCBI Homepage …

[PDF][PDF] OSTEOPOIKILOSIS: REPORT OF A PATIENT WITH ASSOCIATED COMPLEX KNEE INJURIES AND

E Chahidi, V Deworme, A Ledoux, M Luisetto… - 2021 - dipot.ulb.ac.be
OSTEOPOIKILOSIS: REPORT OF A PATIENT WITH ASSOCIATED COMPLEX KNEE INJURIES
AND LITERATURE REVIEW Page 1 ORTHOPEDICS | CASE REPORT OSTEOPOIKILOSIS …

A 65-year-old Patient with Osteopoikilosis and Bilateral Pleural Effusion. Case Report

ML Voulgari, H Kellner - SN Comprehensive Clinical Medicine, 2020 - Springer
Osteopoikilosis, a rare benign bone disease, is usually an incidental radiographic finding
without therapeutic considerations. It is characterized by multiple sclerotic bone lesions …

[PDF][PDF] Osteopoikilosis: Two Senegalese Case Reports

M Niasse, BS Kane, Y Tcheindah, K Condé… - Journal …, 2019 - rarediseasesjournal.com
Discussion Our 2 cases collected over a period of 3 years 06 months suggest a rarity of the
disease in our context. OPK is a rare disease in any study population1, 2, 3, 3, 5, 7. The …

寛骨臼形成不全を伴う股関節周囲melorheostosis に対して切除術を施行した1 例

直木晶生, 石田雅史, 後藤毅, 久本和史… - 日本関節病学会 …, 2024 - jstage.jst.go.jp
図 1 術前股関節単純 X 線像・単純 CT 像・関節造影検査 a: 単純 X 線 正面像. 左腸骨から大腿骨
にかけて流蝋状の骨硬化像を認める. 寛骨臼形成不全の基準を満たしている (Sharp 角 48 度, CE …