MONA spectrum

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Classification according to ICD-10
Q85.9 Phacomatosis, unspecified
ICD-10 online (WHO version 2019)

The MONA spectrum , acronym for M ultizentrische O steolyse - N odulöse (nodule-forming) - A rthropathie is a very rare congenital skeletal dysplasia with main characteristics of a progressive, multifocal osteolysis, erosions of the articular surfaces , fibrous nodules in the subcutis and facial dysmorphism .

The following syndromes, previously listed separately, are summarized under this name:

  • Torg syndrome (multiple painless subcutaneous nodules, moderate osteoporosis, and osteolysis limited to the hand and foot)
  • Winchester syndrome (pronounced osteolysis, generalized osteoporosis, without subcutaneous nodules, facial dysmorphism, corneal opacity)
  • both also grouped together as Torg-Winchester Syndrome
  • NAO syndrome , acronym for N odulosis - A rthropathie- O steolysis, (most pronounced osteolysis and nodule formations, only described in Saudi Arabia)

The names refer to the first author of the first description from 1969 by the American children's radiologist Patricia Winchester and colleagues. and JS Torg and coworkers from the same year.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 50 people have been reported. The inheritance is presumably autosomal - recessive .

root cause

The disease are mutations in MMP2 - gene on chromosome 16 locus q12.2 or MMP14 gene on chromosome 14 locus q11.2 basis.

Clinical manifestations

Clinical criteria are:

diagnosis

In the X-ray image generalized osteopenia , progressive osteolysis of the hands and tarsal bones, from proximal to distal progressively also means hand / foot bones, ends of long bones and clavicle, diaphyseal broadening of the long bones.

Differential diagnosis

The main distinction is juvenile idiopathic arthritis .

therapy

No specific treatment is known.

literature

  • K. Pichler, D. Karall, D. Kotzot, E. Steichen-Gersdorf, A. Rümmele-Waibel, L. Mittaz-Crettol, J. Wanschitz, L. Bonafé, K. Maurer, A. Superti-Furga, S. Scholl-Bürgi: Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder - an alternative therapeutic approach. In: Scientific reports. Vol. 6, September 2016, p. 34017, doi: 10.1038 / srep34017 , PMID 27687687 , PMC 5043187 (free full text).

Individual evidence

  1. ↑ a b c 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 .
  2. ↑ a b c d Multicenter osteolysis-nodulosis-arthropathy spectrum. In: Orphanet (Rare Disease Database).
  3. ↑ A. Zankl, L. Pachman, A. Poznanski, L. Bonafé, F. Wang, Y. Shusterman, DA Fishman, A. Superti-Furga: Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. In: Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research. Volume 22, Number 2, February 2007, pp. 329–333, doi: 10.1359 / jbmr.061013 , PMID 17059372. [Full Text]
  4. ↑ a b Multicentric osteolysis, nodulosis, and arthropathy.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ P. Winchester, H. Grossman, WN Lim, BS Danes: A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis. In: The American journal of roentgenology, radium therapy, and nuclear medicine. Vol. 106, No. 1, May 1969, pp. 121-128, PMID 4238825 .
  6. ↑ JS Torg, AM DiGeorge, JA Kirkpatrick, MM Trujillo: Hereditary multicentric osteolysis with recessive transmission: a new syndrome. In: The Journal of pediatrics. Vol. 75, No. 2, August 1969, pp. 243-252, PMID 5795345 .
  7. ^ Winchester syndrome.  In: Online Mendelian Inheritance in Man . (English)

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