Melorheostosis
| Classification according to ICD-10 | |
|---|---|
| M85.89 | Other specified changes in bone density and structure: unspecified locations |
| ICD-10 online (WHO version 2019) | |
The Melorheostosis ( Greek : μέλι = honey, ῥεῦμα = Flowing ὀστέον = bone) is a rare sections thickening of the bone , usually at the extremities . The bone metabolism is undisturbed.
Synonyms
Melorheostosis is also called Léri's syndrome (André L., neurologist, Paris, 1875–1930) after it was first described . Because of the radiographic appearance of the names are candle wax disease , wax bone disease common. English : Léri's melorheostosis , Léri-Joanny syndrome , candle bone disease .
causes
Genetic factors: Function-reducing mutations in the LEMD3 / MAN1 gene are assumed to be the cause of the disease.
The frequency is less than 1 in 1 million
Symptoms
Often the disease does not cause any symptoms and is discovered as an incidental finding in the X-ray . Fibroses of the skin and edema of the muscles are often found over the changed regions , so that thickening with impairment of the tendon or joint function, including pain and contractures , can occur. In rare cases they bridge the growth plates and lead to growth disorders.
Diagnosis
The diagnosis is made on an X-ray . There are streak-like, sclerosed condensation on the dermatomes reminiscent of drops of wax flowing off a candle.
Radiologically, osteomyelitis , osteopetrosis , osteopoicilia , clinical arthrogryposis , Buschke-Ollendorff syndrome or scleroderma are to be distinguished .
therapy
Treatment is only necessary in the rare cases when movement disorders or stunted growth occur. Then contractures or any bone braces are treated accordingly.
literature
- Carl Joachim Wirth: Practice of orthopedics. Georg Thieme Verlag, Stuttgart / New York 2001, ISBN 3-13-125683-4 .
- Joachim Brossmann, Christian Czerny, Jürgen Freyschmidt: Limits of the normal and the beginnings of the pathological in the radiology of the child and adult skeleton. 13th edition. Georg Thieme Verlag, Stuttgart / New York 2001, ISBN 3-13-362214-5 .
- Sigrid Tinschert: On the clinic and genetics of skeletal dysplasias with modeling disorders , hyperostosis and sclerosis. Habilitation thesis . Berlin 2004 http://edoc.hu-berlin.de/docviews/abstract.php?id=20652
- EM Azouz, A. Greenspan: Melorheostosis. (February 2005) http://www.orpha.net/data/patho/GB/uk-Melorheostosis.pdf
Individual evidence
- ^ R. Wynne-Davies, J. Gormley: The prevalence of skeletal dysplasias. In: Journal of Bone and Joint Surgery. 1985; 67 (B), p. 133.
- ↑ a b F. Hefti: Pediatric orthopedics in practice . Springer, 1998, ISBN 3-540-61480-X , p. 672.
