Pycnodysostosis

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Classification according to ICD-10
Q78.2 Marble Bone Disease
ICD-10 online (WHO version 2019)

The pycnodysostosis ( OMIM : 265800) is an extremely rare disease of bone from the form circle of Osteopetrosen (marble bone disease). Since it was first described in 1962, only a few hundred cases have been described worldwide (as of 2006).

Clinical appearance

In the affected patients, there is a strong increase in bone mass, which shows up as a compacted bone structure in the X-ray image. This densified structure is less stable than normal bone and patients often suffer from fractures. Other typical features are: short stature , changes in the facial skull, spondylolysis of the lumbar vertebrae and underdevelopment of the collarbone. The patients show normal mental development. In contrast to other osteopetroses, there is usually no anemia or cranial nerve damage.

Genetic bases

The pycnodysostosis based on an autosomal - recessive inherited genetic mutation in the chromosome 1 locus q21, leading to a sub-function of the protein cathepsin leads K. Without cathepsin K, the body's own bone-breaking cells ( osteoclasts ) cannot break down the bone substance and bone substance accumulates in the course of bone growth and remodeling.

Trivia

The short stature of the French painter Henri de Toulouse-Lautrec is said to have been caused by pycnodysostosis.

literature

  • AF Schilling, C. Mülhausen, W. Lehmann, R. Santer, T. Schinke, JM Rueger, M. Amling: High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K. In: Osteoporos Int. (2007) 18 (5), pp. 659-669.
  • L. Karakurt, E. Yilmaz, O. Belhan, E. Serin: Pycnodysostosis associated with bilateral congenital pseudarthrosis of the clavicle. In: Arch Orthop Trauma Surg. (2003) 123, pp. 125-127.
  • MS Zenke, M. Hatori, S. Tago, M. Hosaka, S. Kokubun: Pycnodysostosis associated with spondylolysis. In: Arch Orthop Trauma Surg. (2002) 122, pp. 248-250.
  • AT Soliman, MA Ramadan, A. Sherif, ES Aziz Bedair, MM Rizk: Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. In: Metabolism. (2001) 50, pp. 905-911.
  • Y. Fujita, K. Nakata, N. Yasui, Y. Matsui, E. Kataoka, K. Hiroshima, RI Shiba, T. Ochi: Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization. In: J ClinEndocrinol Metab. (2000) 85, pp. 425-431.
  • N. Ho, A. Punturieri, D. Wilkin, J. Szabo, M. Johnson, J. Whaley, J. Davis, A. Clark, S. Weiss, C. Francomano: Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein. In: J Bone Miner Res . (1999) 14, pp. 1649-1653.
  • AT Soliman, A. Rajab, I. AlSalmi, A. Darwish, M. Asfour: Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment. In: Arch Dis Child . (1996) 75, pp. 242-244.
  • S. Darcan, M. Akisu, B. Taneli, G. Kendir: A case of pycnodysostosis with growth hormone deficiency. In: Clin Genet. (1996) 50, pp. 422-425.
  • P. Maroteaux, M. Lamy: Pycnodysostosis. In: Presse Med. (1962) 70, pp. 999-1002.

Web links

Individual evidence

  1. ↑ Genetics: inherited dwarfism? In: Spiegel Online . tape 26 , June 26, 1995 ( spiegel.de [accessed on 20 October 2019]).