Osteopetrosis: Gene-based nosology and significance dysosteosclerosis.

Turan S.

Bone, cilt.167, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 167
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1016/j.bone.2022.116615
  • Dergi Adı: Bone
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, PASCAL, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Anahtar Kelimeler: Dysosteosclerosis, Bone fractures, Osteopetrosis, Osteosclerosis, Osteopenia, Optic atrophy, Jaw necrosis, Metaphyseal osteosclerosis, Osteosclerotic metaphyseal dysplasia, Pyle disease, Brain abnormalities, Neurodegeneration, Dementia, Leukoencephalopathy, TNFRSF11A, TCIRG1, LRRK1, CSF1R, TNFSF11, OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA, TARGETED DISRUPTION, SKELETAL DYSPLASIA, MUTATIONS, IDENTIFICATION, OSTEOCLASTS, DEFICIENCY, SLC29A3, HENT3, MINERALIZATION
  • Marmara Üniversitesi Adresli: Evet

Özet

Dysosteosclerosis (DSS) refers to skeletal dysplasias that radiographically feature focal appendicular osteo-sclerosis with variable platyspondyly. Genetic heterogeneity is increasingly reported for the DSS phenotype and now involves mutations of SLC29A3, TNFRSF11A, TCIRG1, LRRK1, and CSF1R. Typical radiological findings are widened radiolucent long bones with thin cortices yet dense irregular metaphyses, flattened vertebral bodies, dense ribs, and multiple fractures. However, the radiographic features of DSS evolve, and the metaphyseal and/ or appendicular osteosclerosis variably fades with increasing patient age, likely due to some residual osteoclast function. Fractures are the principal presentation of DSS, and may even occur in infancy with SLC29A3-asso-ciated DSS. Cranial base sclerosis can lead to cranial nerve palsies such as optic atrophy, and may be the initial presentation, though not observed with SLC29A3-associated DSS. Gene-specific extra-skeletal features can be the main complication in some forms of DSS such as CSF1R-associated DSS. Further genetic heterogeneity is likely, especially for X-linked recessive DSS and cases currently with an unknown genetic defect. Distinguishing DSS can be challenging due to variable clinical and radiological features and an evolving phenotype. However, defining the DSS phenotype is important for predicting complications, prognosis, and instituting appropriate health surveillance and treatment.