Metachondromatosis

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Classification according to ICD-10
Q78.4 Enchondromatosis
ICD-10 online (WHO version 2019)

The Metachondromatosis is a very rare congenital disease with a combination of enchondromas , exostosis and osteochondroma -like changes.

Synonyms are: MC; METCDS

The first description comes from 1971 by Pierre Maroteaux .

distribution

The frequency is given as less than 1 in 1,000,000, so far about 40 affected people have been reported. The inheritance is autosomal dominant .

root cause

Of the disease are mutations in PTPN11 - gene on chromosome 12 locus q24.13 based, which for the synthesis of the protein tyrosine phosphatase, non-receptor type 11 (PTPN11) coded.

Mutations in this gene are also involved in LEOPARD syndrome , the somatic form of juvenile myelomonocytic leukemia and Noonan's syndrome .

Clinical manifestations

Clinical criteria are:

Hypodontia may also occur.

Malignant degeneration has been described extremely rarely, but other sources contradict this.

diagnosis

The diagnosis is based on the history , clinical and radiological findings. The x-ray shows osteochondromas on the metaphyses of the short tubular bones together with enchondromas. A prenatal diagnosis is possible.

Differential diagnosis

The following are to be distinguished:

therapy

A surgical treatment comes only with pronounced deformity question.

literature

  • N. Mansor, T. Saisu, J. Kakizaki, Y. Oikawa, M. Kamegaya: Arthroscopic resection of femoral neck osteochondroma: Report of a pediatric case of metachondromatosis. In: Journal of orthopedic science: official journal of the Japanese Orthopedic Association. [electronic publication before printing] September 2019, doi: 10.1016 / j.jos.2019.08.008 , PMID 31522903 .
  • Z. Wang, Y. Zou, Y. Chen, Y. Chen: Multiple unexpected lesions of metachondromatosis detected by technetium-99m methylene diphosphonate SPECT / CT: A case report. In: Medicine. Volume 97, number 17, April 2018, p. E0512, doi: 10.1097 / MD.0000000000010512 , PMID 29703018 , PMC 5944487 (free full text).
  • K. Jamshidi, T. Shooshtarizadeh, M. Bahrabadi: Chondrosarcoma in Metachondromatosis: A Rare Case Report. In: Acta medica Iranica. Volume 55, Number 12, December 2017, pp. 793-799, PMID 29373887 .

Individual evidence

  1. a b c d e f g metachondromatosis. In: Orphanet (Rare Disease Database).
  2. a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  3. P. Maroteaux: La Metachondromatosis. In: Zeitschrift für Kinderheilkunde Vol. 109, pp. 246-261, 1971. PMID 5313319
  4. metachondromatosis.  In: Online Mendelian Inheritance in Man . (English)
  5. PTPN11.  In: Online Mendelian Inheritance in Man . (English)
  6. F. Hefti: Pediatric Orthopedics in Practice . Springer 1998, ISBN 3-540-61480-X . Chapter 4.6.8.2
  7. K. Ebel, E. Willich, E. Richter (Eds.): Differentialdiagnostik in der Pediatric Radiologie. Thieme 1995, Vol. I., p. 325, ISBN 3-13-128101-4

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