Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis

Faber, Mette Tuxen; Verlaak, René; Fiselier, T.J.W.; Hamel, B.C.J.; Franssen, M. J. A. M.; Gerrits, G. P. J. M.

doi:10.1007/s00431-004-1502-1

Cited by 23 publications

(36 citation statements)

References 24 publications

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“…Previously it was known as idiopathic multicentric osteolysis and was first described in 1838 by this term [2]. Tyler et al also preferred the term idiopathic multicentric osteolysis (1976) as this encompassed the wide array of descriptive terminology used to describe this condition in the literature [3].…”

Section: Discussionmentioning

confidence: 99%

“…The term idiopathic carpal tarsal osteolysis was first used by Froelich and Coerret in 1937 [1,4]. It is also known as multicentric carpal-tarsal osteolysis with and without nephropathy, and the association of renal failure was first described by Marie et al in 1951 [2,4].…”

Section: Discussionmentioning

confidence: 99%

“…Type II is inherited as autosomal recessive with no renal involvement. Type III is sporadic with frequent renal involvement [2]. Type IV is also known as Gorhams disease and is unicentric and caused by haemangiomatosis.…”

Section: Discussionmentioning

confidence: 99%

“…Type IV is also known as Gorhams disease and is unicentric and caused by haemangiomatosis. Type V is also known as Winchester syndrome and is associated with a different clinical presentation, corneal clouding, contractures, and skin lesions [2,3].…”

Section: Discussionmentioning

confidence: 99%

“…Patients with ICTO present in early childhood with progressive acromelic joint pain, limitation of movement, swelling, and deformity [2,4]. The onset of disease usually begins around age 2 or 3.…”

Section: Discussionmentioning

confidence: 99%

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Idiopathic carpal tarsal osteolysis (ICTO) with additional elbow involvement

et al. 2011

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Idiopathic carpal tarsal osteolysis (ICTO) with additional elbow involvement

et al. 2011

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The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability

Mehawej

Courcet

Baujat

et al. 2013

American J of Med Genetics Pt A

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Multicentric carpo-tarsal osteolysis (MCTO) with or without nephropathy is a rare osteolysis disorder beginning in early childhood and involving mainly carpal and tarsal bones. Renal disease appears later in life in the majority of cases and evolves quickly to end stage renal failure. Autosomal dominant (AD) inheritance has been demonstrated, with a high frequency of sporadic cases. Recently, mutations in a highly conserved region of the MAFB gene (v-maf musculoaponeurotic fibrosarcoma oncogene ortholog B) have been identified in MCTO patients by exome sequencing. MafB, known as a regulator of various developmental processes, is essential for osteoclastogenesis and renal development. We report here the molecular screening of MAFB in eight MCTO patients from six families. We identified MAFB mutations in all, including three novel missense mutations clustering within the hot spot mutation region. Among the eight patients, six only presented renal disease. Our report confirms the genetic homogeneity of MCTO and provides data underlying the clinical variability of this disorder.

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Carpal-tarsal osteolysis with elbow involvement

et al. 2007

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Carpal-tarsal osteolysis is a rare condition that manifests as the progressive resorption of carpal and tarsal bones in young children. The diagnosis of this condition is often difficult and delayed as the initial clinical presentation is non-specific. Radiographic changes occur gradually, are often not seen at presentation and depend on recognising loss of bone in the ossification centres of the carpus and tarsus. MRI demonstrates morphological abnormalities in the cartilaginous, as well as the osseous components, of the developing carpal and tarsal bones and therefore may be helpful in predating the radiographic changes. Ultrasound appears to contribute little to the diagnosis and may be misleading. Exclusion of other conditions, particularly juvenile idiopathic arthritis, is important in making the diagnosis. MRI can be useful in excluding an inflammatory arthropathy, and suggesting the diagnosis of carpal-tarsal osteolysis.

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Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis

Abstract: Recognition of this disease and differentiation from juvenile idiopathic arthritis is important to avoid unnecessary investigations and treatment. Follow-up of renal function is indicated.

Cited by 23 publications

References 24 publications

Idiopathic carpal tarsal osteolysis (ICTO) with additional elbow involvement

Idiopathic carpal tarsal osteolysis (ICTO) with additional elbow involvement

The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability

Carpal-tarsal osteolysis with elbow involvement

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