Progressive pseudorheumatoid arthropathy

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Classification according to ICD-10
Q77.7 Dysplasia spondyloepiphysaria
ICD-10 online (WHO version 2019)

The Progressive Pseudorheumatoide arthropathy of childhood is a very rare congenital disease with a combination of Spondyloepiphysärer dysplasia and progressive arthropathy .

Synonyms are: Spondyloepiphyseal dysplasia (SED) with progressive arthropathy; English PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD; PPAC; SEDT-PA; PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; PPD

distribution

The frequency is given as 1–9 in 1,000,000, inheritance is autosomal - recessive . The disease is mainly prevalent in the Middle East and the Maghreb .

root cause

The disease are mutations in WISP3 - gene at the location 6q21 basis, which encodes a growth regulator.

Clinical manifestations

The disease begins in preschool or school age (between 2 and 11 years of age) with swelling of the finger joints near the wrist . It shows an enlargement of the epiphyses , narrowing of the joint space, flattening of the vertebral bodies and increasing destruction of the joints. In addition, muscle weakness and restricted mobility occur. In addition, knee misalignments ( genu varum or genu valgum ) and spinal curvature ( hyperlordosis , kyphosis ) occur. There are no changes outside of the musculoskeletal system.

diagnosis

The diagnosis is based on the clinical and radiological findings.

In addition to the image of spondyloepiphyseal dysplasia, essential criteria in the X-ray are:

Differential diagnosis

The following is to be distinguished:

history

The first description was in 1983 by the Mainz pediatrician Jürgen Spranger and his colleagues.

literature

  • CA Cassa, SE Smith, W. Docken, E. Hoffman, H. McLaughlin, S. Chun, I. Leshchiner, H. Miraoui, S. Raychaudhuri, NY Frank, BJ Wilson, SR Sunyaev, RL Maas ,. , D. Vu: An argument for early genomic sequencing in atypical cases: a WISP3 variant leads to diagnosis of progressive pseudorheumatoid arthropathy of childhood. In: Rheumatology (Oxford, England). [Electronic publication before going to press] October 2015, doi: 10.1093 / rheumatology / kev367 , PMID 26493744 .
  • O. Cogulu, F. Ozkinay, C. Ozkinay, G. Sapmaz, O. Yalman, HB Deveci: Progressive pseudorheumatoid arthropathy of childhood. In: Indian journal of pediatrics. Vol. 66, No. 3, 1999 May-Jun, pp. 455-460, PMID 10798093 .

Individual evidence

  1. ↑ a b F. Hefti: Pediatric orthopedics in practice. Springer 1998, ISBN 3-540-61480-X .
  2. ↑ a b c d arthropathy, progressive pseudorheumatoid, childhood. In: Orphanet (Rare Disease Database).
  3. ^ Spondyloepiphyseal dysplasia tarda with progressive arthropathy.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ J. Spranger, C. Albert, F. Schilling, C. Bartsocas: Progressive pseudorheumatoid arthropathy of childhood (PPAC): a hereditary disorder simulating juvenile rheumatoid arthritis. In: American journal of medical genetics. Vol. 14, No. 2, February 1983, pp. 399-401, doi: 10.1002 / ajmg.1320140224 , PMID 6837637 .
  5. ↑ J. Spranger, C. Albert, F. Schilling, C. Bartsocas, H. Stöss: Progressive pseudorheumatoid arthritis of childhood (PPAC). A hereditary disorder simulating rheumatoid arthritis. In: European Journal of Pediatrics. Vol. 140, No. 1, March 1983, pp. 34-40, PMID 6873109 .

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