Hereditary idiopathic osteolysis type II Joseph

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Classification according to ICD-10
M89.5 Osteolysis
ICD-10 online (WHO version 2019)

The Hereditary idiopathic osteolysis Type II Joseph is a very rare congenital disease with the main feature of an isolated osteolysis of the extremities , usually fingers and toes , and thus the Akroosteolysen properly.

Synonyms are: Phalangeal acroosteolysis Joseph / Shinz; English Joseph and Shinz disease

The name refers to the first author of the first description from 1959 by the French pediatrician Raymond Joseph (1903–1962).

The frequency and causes are not known; inheritance is autosomal - recessive .

Clinical manifestations

Clinical criteria are:

  • Onset of illness in middle childhood
  • Swelling of the phalanges of the fingers
  • isolated, no further changes

Differential diagnosis

Other forms of hereditary acroosteolysis are to be distinguished , in particular the autosomal dominant hereditary hereditary idiopathic osteolysis type I Lamy-Maroteaux .

literature

  • A. Al Kaissi, S. Scholl-Buergi, R. Biedermann, K. Maurer, JG Hofstaetter, K. Klaushofer, F. Grill: The diagnosis and management of patients with idiopathic osteolysis. In: Pediatric rheumatology online journal. Vol. 9, October 2011, p. 31, doi: 10.1186 / 1546-0096-9-31 , PMID 21995273 , PMC 3203843 (free full text).
  • Taoufik Harzy, Karima Benbouazza, Noufissa Lazrak, Bouchra Amine, Najia Hajjaj-Hassouni: À propos d'un cas rare d'acro-ostéolyse idiopathique. In: Revue du Rhumatisme. Vol. 70, 2003, p. 262, doi: 10.1016 / S1169-8330 (03) 00051-6
  • JW Spranger, LO Langer, HR Wiedemann: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development Saunders, 1974, pp. 211-218.

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. ↑ T. Harzy, K. Benbouazza, N. Lazrak, B. Amine, N. Hajjaj-Hassouni: Idiopathic phalangeal acroosteolysis: a case report. In: Joint, bone, spine: revue du rhumatisme. Vol. 70, No. 2, March 2003, pp. 146-148, PMID 12713861 .
  3. ↑ R. Joseph, C. Nezelof, L. Guéraud, JC job: Acroostéolyse idiopathique familiale. In: Annales pédiatrie Vol. 35, 1959, pp. 82-89.