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Rare systemic bone diseases

Diseases other than osteoporosis/Miller’s disease

Osteogenesis imperfecta (brittle bone disease) is caused by gene defects in the collagen gene. It not only occurs during childhood; occasionally, it only manifests itself during adulthood.

Osteoscleroses are bone diseases involving increased bone density but fragile bones. These include osteopetrosis, a genetic disease involving defective osteoclasts.

Osteopoikilosis is randomly diagnosed on X-ray images and is clinically inconspicuous. Fluoridosis is endemic due to increased fluoride concentrations in drinking water or iatrogenic due to incorrect treatment. Typical characteristics include pain in the lower extremities; the bone density is increased but so is the fracture rate.

Local osteopathies

Paget’s disease is characterised by honeycombed bones; one (frequently e.g. the tibia) or several bones (pelvis, skull, etc.) are affected. Its genesis is unclear; its incidence is decreasing worldwide. Patients complain of pain and the skin over the affected bone is excessively warm. Bisphosphonates or denosumab are used in therapy.

Fibrous dysplasia is caused by a gene defect in the GNAS gene; the polyostotic form is also called Jaffé-Lichtenstein syndrome. McCune-Albright syndrome occurs in combination with endocrinopathies. The bones have a washed-out appearance that resembles frosted glass.

Melorheostosis is an impressive random finding from X-ray images. It is also referred to as Leri’s disease. Therapy is not usually necessary.

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Veröffentlichung Endokrinologie und Osteologie in der Hausarztpraxis Endokrinologie und Osteologie in der Hausarztpraxis
Im renommierten Fachverlag Springer ist das neue Buch von Prof. Dr. Dr. Wüster erschienen. Unter dem Titel „Endokrinologie und Osteologie in der Hausarztpraxis, Leitfaden für die tägliche Patienten-Versorgung“ finden Interessierte praxisnahe Hinweise zur hausärztlichen Patientenversorgung in der Endokrinologie und Osteologie. Auch wenn das Buch an erster Stelle die Hausarztpraxen adressiert, so richtet es sich darüber hinaus auch an bestimmte Fachärzte (Internisten, Gynäkologen, Urologen, Orthopäden, Rheumatologen, Pädiater) sowie an Medizinstudenten, erfahrene MFA und Physiotherapeuten.
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