Hereditary idiopathic osteolysis type I Lamy-Maroteaux

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

The Hereditary idiopathic osteolysis Type I Lamy Maroteaux 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.

Synonym : Maroteaux-Lamy syndrome II (in contrast to Maroteaux-Lamy syndrome (I), a metabolic disorder ).

The name refers to the authors of the first description from 1961 by the Parisian pediatricians and human geneticists Maurice Lamy (1895-1975) and Pierre Maroteaux (* 1926).

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

Clinical manifestations

Clinical criteria are:

  • Onset of illness in earlier or later childhood
  • Symptom-free and slow osteolysis of the distal phalanges on the hand and foot with shortening of the fingers and toes
  • Ulceration of the skin over the affected limbs, nail hypoplasia

diagnosis

In the X-ray image resolution of the distal phalanges, partly also the middle and proximal phalanges.

Differential diagnosis

Demarcate are other forms of hereditary acro-osteolysis , in particular the autosomal - recessive hereditary hereditary idiopathic osteolysis type II Joseph , and an exposure with respect to vinyl chloride , so-called. Vinyl chloride disease .

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. Volume 9, October 2011, p. 31, doi: 10.1186 / 1546-0096-9-31 , PMID 21995273 , PMC 3203843 (free full text).
  • 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 d 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 Who named it
  3. ↑ P. Maroteaux, M. Lamy: Acro-ostéolyse dominante. In: Archives francaises de pédiatrie , Paris, 1961, 18: 693–702.