Rare and unusual bone dysplasia

• Published in: Journal of clinical pathology Vol. 73; no. 4; p. 235
• Main Authors: Li, Yazhuo, Hu, Lili, Wang, Hongwei, Jin, Yiduo, Zang, Xuan
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group LTD 01.04.2020
• Subjects: Bone cancer; Bone Diseases, Developmental - pathology; Cartilage; Diagnosis, Differential; Disease; Humans; Hyperplasia; Leg; Male; Medical prognosis; Melorheostosis - pathology; Middle Aged; Mutation; Pain; Patients; histopathology; immunocytochemistry; bone pathology
• ISSN: 0021-9746; 1472-4146
• DOI: 10.1136/jclinpath-2019-206101

(C) Microscopic examination: bone and surrounding soft tissues constituted multifocal hyperplasia bony nodules, some of them were irregularly connected in patches, some of them grew surrounding dysplasia blood vessels, some of them were filled with adipose tissue. The melorheostosis is seen in patients who have ‘spotted bone’ osteopoikilosis is associated with a mutation in germline LEMD3.4 Whyte et al have shown that additional somatic mutations in KRAS (kirsten rat sarcoma viral oncogene), and possibly other genes, may play a role in the development of melorheostosis lesions on radiographs in some patients in an osteopoikilosis kindred.5 Histologically, abnormal bone hyperplasia nodules are present on bone surface. The principal histological differential diagnoses include osteopetrosis, osteopoikilosis, chronic sclerosing osteomyelitis and low-grade central osteosarcoma; all four conditions show a specific imagining characteristic, different location and age of onset, but lack wax drop-like changes.