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Osteopoikilosis in a patient with familial adenopolyposis : A case report.
Radiol Case Rep
October 2024
Department of Orthopaedic Surgery, St. Luke's Hospital, Thessaloniki, Greece.
Osteopoikilosis, a sclerosing bone dysplasia, is an asymptomatic incidental finding characterised by multiple bone islands. Although it requires no treatment there can be diagnostic uncertainty as appearances can be similar to osteoblastic metastases or metabolic disorders such as Paget disease. We present a case of osteopoikilosis in a patient with familial adenopolyposis and discuss the clinical presentation, image findings and key considerations in diagnosis of this benign entity.
View Article and Find Full Text PDFA Rare Case of Hereditary Bone Dysplasia: Osteopoikilosis in a Mother and Her Son.
Cureus
June 2024
Orthopedic, Department of Surgery, Umm Al-Qura University, Qunfudhah, SAU.
Osteopoikilosis (OP) is a rare genetic bone dysplasia that causes dense patches in the trabecular bone and occurs in one in 50,000 people. The exact cause is unknown, but it could be due to mutations in the LEM domain-containing gene 3. Two cases were discovered incidentally in a clinic.
View Article and Find Full Text PDFA novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.
Turk J Pediatr
May 2020
Departments of Pediatric Endocrinology, Ankara Children's Hematology and Oncology Training and Research Hospital, Ankara, Turkey.
Elmaoğulları S, Yıldız AE, Demir S, Gürkan H, Uçaktürk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. Turk J Pediatr 2019; 61: 594-598.
View Article and Find Full Text PDFA Report of a Novel Pathogenic Variant in a Family with Buschke-Ollendorf Syndrome.
J Pediatr Genet
March 2020
The Atwal Clinic: Genomic and Personalized Medicine, Jacksonville, Florida, United States.
Buschke-Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in . Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of detected a heterozygous frameshift pathogenic variant in both the affected family members.
View Article and Find Full Text PDFBuschke-Ollendorff syndrome (BOS) is a rare autosomal dominant genodermatosis caused by heterozygous mutations in LEMD3 and characterized by connective tissue nevi and sclerotic bone lesions known as osteopoikilosis. We report a family with three individuals affected by BOS, two of whom manifested clinical and histopathological peculiarities, presenting with a depressed indurated plaque as the main cutaneous manifestation instead of the classic connective tissue nevi. Notable elastorrhexis was present in both biopsies.
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