Leri pleonosteosis

Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri in 1921.

Presentation

The clinical features of this condition include

Flattened facial features
Flexion contractures of the interphalangeal joints of hand and foot.
Limited motion of multiple joints
Short broad metacarpals, metatarsals and phalanges

Thickening of the skin may occur in a fashion similar to that occurs in scleroderma. The thumbs may be angled in a lateral direction. The knees may be angled backwards. Abnormalities of the upper spinal cord may also occur.

Genetics

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).

Diagnosis

Diagnosis for Leri pleonostosis can be made by clinical evaluation, taking patient history, characteristic physical findings, and imaging.

Treatment

Treatment of Leri pleonostosis is based on the symptoms of the affected individual, and can include physical therapy and genetic counseling.