Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri in 1921.
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Clinical features
The clinical features of this condition include
Thickening of the skin may occur in a fashion similar to that occurs in scleroderma. The thumbs may be angled in a lateral direction (valgus deformity). The knees may be angled backwards (genu recurvatum). Abnormalities of the upper spinal cord may also occur.
Genetics
It has been assigned the OMIM number of 151200.
It is inherited in an autosomal dominant fashion.
The pathogenesis of this condition appears to be due to over expression of two genes - GDF6 and SDC2. These genes are located on the long arm of chromosome 8(8q22.1).
References
Leri pleonosteosis Wikipedia(Text) CC BY-SA