Hereditary idiopathic osteolysis type IV Thieffry-Shurtleff
Classification according to ICD-10 | |
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M89.5 | Osteolysis |
ICD-10 online (WHO version 2019) |
The Hereditary idiopathic osteolysis Type IV Thieffry-Shurtleff is a very rare congenital disease with the main features of an osteolytic lesion of the hand - and tarsal bones and often combined with chronic renal failure .
Probable synonyms are: Multicentric carpotarsal osteolysis syndrome; Osteolysis, Hereditary, of Carpal Bones With or Without Nephropathy; Multicentric Osteolysis, Autosomal Dominant; Thieffry-Kohler Syndrome
The name refers to the first authors of a description from 1958 by the French neuropediatricians Stephane Thieffry (1910–1990) and Jacqueline Sorrel-Déjérine and from 1964 by the American pediatrician David B. Shurtleff and colleagues.
distribution
The frequency is unknown; the inheritance is autosomal dominant .
root cause
The disease are mutations in MAFB - gene on chromosome 20 locus q12 based.
Clinical manifestations
Clinical criteria are:
- Progressive osteolysis of the carpal and tarsal bones
- Deformity of the affected joints
- Nephropathy with chronic renal failure
In addition, there may be intellectual disabilities and facial problems.
Differential diagnosis
Other forms of hereditary acroosteolysis are to be distinguished . The Multicenter karpotarsale osteolysis is possibly the same clinical picture.
history
The first description comes from 1951 by the Swiss radiologist Hans Rudolf Schinz (1891–1966) and colleagues.
literature
- F. Hardegger, LA Simpson, G. Segmueller: The syndrome of idiopathic osteolysis. Classification, review, and case report. In: The Journal of bone and joint surgery. British volume. Volume 67, Number 1, January 1985, pp. 88-93, PMID 3968152 . boneandjoint.org.uk (PDF)
- JW Spranger, LO Langer, HR Wiedemann: Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development . Saunders, 1974, pp. 211-218.
Web links
Individual evidence
- ↑ 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 .
- ↑ a b Multicenter carpotarsal osteolysis with or without nephropathy. In: Orphanet (Rare Disease Database).
- ^ E. Kohler, D. Babbitt, B. Huizenga, TA Good: Hereditary osteolysis. A clinical, radiological and chemical study. In: Radiology , Volume 108, Number 1, July 1973, pp. 99-105, doi: 10.1148 / 108.1.99 , PMID 4709054 .
- ^ R. Witkowski, O. Prokop, E. Ullrich: T. In: Lexicon of Syndromes and Malformations . 1995, ISBN 978-3-642-97629-2 , Online ISBN 978-3-642-97628-5 doi: 10.1007 / 978-3-642-97628-5_24
- ↑ S. Thieffry, J. Sorrel-Dejerine: Forme speciale d'osteolyse essential hereditaire et familiale a stabilization spontanee, survenant dans l'enfance . In: La Presse medicale. Volume 66, Number 83, November 1958, pp. 1858-1861, PMID 13623687 .
- ^ DB Shurtleff, RS Sparkes, DK Clawson, WG Guntherroth, NK Mottet: Hereditary osteolysis with hypertension and nephropathy. In: JAMA , Volume 188, April 1964, pp. 363-368, PMID 14114021 .
- ↑ Multicentric carpotarsal osteolysis syndrome. In: Online Mendelian Inheritance in Man . (English)
- ^ HR Schinz, WE Baensch, E. Friedl, E. Uehlinger (eds.): Textbook of X-ray diagnostics . Volume 1, Part 1. 1951, p. 734, Fig. 969.