Spinal cord compression in Léri's pleonosteosis

Metcalfe, Richard; Butler, Peter M.

doi:10.1259/0007-1285-58-695-1117

Cited by 2 publications

(1 citation statement)

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“…1 Additional features, including chronic joint pain, facial dysmorphism, bony overgrowths, short stature, spinal cord compression, carpal-tunnel syndrome and scleroderma-like thickening of skin, have also been described in some affected individuals. [2][3][4][5][6][7] The clinical manifestations of LP overlap with a number of musculoskeletal conditions, including Myhre syndrome (MIM 139210), acromicric dysplasia (MIM 102370), geleophysic dysplasias (MIM 231050 and 614185), Weill-Marchesani syndromes (MIM 277600 and 608328) and stiff skin syndrome (MIM 184900). Recent genetic studies have implicated abnormalities of extracellular matrix (ECM) and SMAD/transforming growth factor (TGF)-β signalling in the pathogenesis of these conditions.…”

Section: Introductionmentioning

confidence: 99%

Leri’s pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassingGDF6andSDC2and provides insight into systemic sclerosis pathogenesis

et al. 2014

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Our work identifies the genetic cause of LP in these two families, demonstrates the phenotypic range of the condition, implicates dysregulation of extracellular matrix homoeostasis genes in its pathogenesis, and highlights the link between TGF-β/SMAD signalling, growth/differentiation factor 6 and syndecan-2. We propose that LP is an additional member of the growing 'TGF-β-pathies' group of musculoskeletal disorders, which includes Myhre syndrome, acromicric dysplasia, geleophysic dysplasias, Weill-Marchesani syndromes and stiff skin syndrome. Identification of a systemic sclerosis-protective SDC2 variant lays the foundation for exploration of the role of syndecan-2 in systemic sclerosis in the future.

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