Sclerosing bone disorders

Michael P. Whyte

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

3 Scopus citations


Increased skeletal mass is caused by many rare osteochondrodysplasias and by various dietary, metabolic, endocrine, hematological, infectious, and neoplastic disorders. This chapter reviews principally the key Mendelian diseases. It discusses clinical presentation, radiological features, laboratory findings, histopathological findings, etiology and pathogenesis, diagnosis, and treatment of various sclerosing bone disorders. Osteopetrosis (OPT), carbonic anhydrase II (CA II) deficiency, pycnodysostosis, progressive diaphyseal dysplasia (PDD), osteopoikilosis (OPK), osteopathia striata, melorheostosis (MEL), axial osteomalacia, fibrogenesis imperfecta ossium (FIO), pachydermoperiostosis, and Hepatitis C-associated osteosclerosis are some of the osteosclerosis diseases. The chapter lists many additional conditions associated with focal or generalized increases in skeletal mass. Sarcoidosis characteristically causes cysts within coarsely reticulated bone. However, sclerotic areas occasionally appear in the axial skeleton or long bones. Diffuse osteosclerosis reflects secondary but not primary hyperparathyroidism.

Original languageEnglish
Title of host publicationPrimer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
Number of pages14
ISBN (Electronic)9781119266594
ISBN (Print)9781119266563
StatePublished - Jan 1 2018


  • Axial osteomalacia
  • Bone disorders
  • Hepatitis c-associated osteosclerosis
  • Melorheostosis
  • Osteopetrosis
  • Osteopoikilosis
  • Pachydermoperiostosis
  • Progressive diaphyseal dysplasia
  • Pycnodysostosis


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