Top

Published in:

01-07-2018 | Case Report

Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients

Authors: Céline Klein, Jonathan Bellity, Georges Finidori, Christophe Glorion, Stéphanie Pannier

Published in: Skeletal Radiology | Issue 7/2018

Abstract

Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal disorder characterized by progressive carpal and tarsal destruction. The upper and lower limbs may be involved, leading to deformities and joint limitation. These anatomic features may be associated with progressive renal failure. The radiographs obtained during childhood showed a carpal and tarsal osteolysis and an asymmetrical involvement. Here, we report on the long-term clinical and radiological findings of three patients with skeletal manifestations of MCTO.

Shurtleff DB, Sparkes RS, Clawson DK, Guntheroth WG, Mottet NK. Hereditary osteolysis with hypertension and nephropathy. JAMA. 1964;188:363–8.CrossRefPubMed

Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, et al. Nosology and classification of genetic skeletal disorders: am. J Med Genet A. 2015;167:2869–92.CrossRef

Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor M-C, et al. Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB. Am J Hum Genet. 2012;90:494–501.CrossRefPubMedPubMedCentral

Ismail F, Muller C, Goller R, Lockhat ZI, Andronikou S. Idiopathic carpal tarsal osteolysis (ICTO) with additional elbow involvement. Skelet Radiol. 2012;41:603–5. 619–20CrossRef

Tyler T, Rosenbaum HD. Idiopathic multicentric osteolysis. AJR Am J Roentgenol. 1976;126:23–31.CrossRefPubMed

Faber MR, Verlaak R, Fiselier TJW, Hamel BCJ, Franssen MJAM, Gerrits GPJM. Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis. Eur J Pediatr. 2004;163:612–8.PubMed

McDonald K, Toms AP, Armon K, Johnson K, Marshall TJ. Carpal-tarsal osteolysis with elbow involvement. Skelet Radiol. 2007;36:1097–101.CrossRef

Gluck J, Miller JJ. Familial osteolysis of the carpal and tarsal bones. J Pediatr. 1972;81:506–10.CrossRefPubMed

Tuncbilek E, Besim A, Bakkaloglu A, Tuncer E, Secmeer G. Carpal-tarsal osteolysis. Pediatr Radiol. 1985;15:255–8.CrossRefPubMed

10.

Mehawej C, Courcet J-B, Baujat G, Mouy R, Gérard M, Landru I, et al. The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability. Am J Med Genet A. 2013;161A:3023–9.CrossRefPubMed

11.

Hardegger F, Simpson LA, Segmueller G. The syndrome of idiopathic osteolysis. Classification, review, and case report. J Bone Joint Surg Br. 1985;67:88–93.CrossRefPubMed

12.

Carmichael KD, Launikitis RA, Kalia A. The orthopedic and renal manifestations of idiopathic carpal tarsal osteolysis. J Pediatr Orthop Part B. 2007;16:451–4.CrossRef

Title: Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients
Authors: Céline Klein
Jonathan Bellity
Georges Finidori
Christophe Glorion
Stéphanie Pannier
Publication date: 01-07-2018
Publisher: Springer Berlin Heidelberg
Published in: Skeletal Radiology / Issue 7/2018
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-018-2874-z

At a glance: The STEP trials

Springer Medicine

Multicentric carpotarsal osteolysis syndrome: long-term follow-up of three patients

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 7/2018

Prevalence of vitamin D insufficiency in radiologists: a cross-sectional study

Browser’s Notes

Abnormal alignment of the left lower extremity and irregular gait

Multimodality imaging of subacromial impingement syndrome

Interposition of the transverse ligament of the knee into a fracture of the tibial plateau: a case report

Anaplastic plasmacytoma: a rare tumor presenting as a pathological fracture in a younger adult