Leri pleonosteosis
Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri in 1921.[1]
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.[2] These genes are located on the long arm of chromosome 8(8q22.1).
Clinical features
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 (valgus deformity). The knees may be angled backwards (genu recurvatum). Abnormalities of the upper spinal cord may also occur.
References
- ↑ Leri A (1921) Une maladie congenitale et hereditaire de l'ossification: la pleonosteose familiale. Bull Mem Soc Med Hop Paris 45: 1228-1230
- ↑ Banka S, Cain SA, Carim S, Daly SB, Urquhart JE, Erdem G, Harris J, Bottomley M, Donnai D, Kerr B, Kingston H, Superti-Furga A, Unger S, Ennis H, Worthington J, Herrick AL, Merry CL, Yue WW, Kielty CM, Newman WG (2014) Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. Ann Rheum Dis doi: 10.1136/annrheumdis-2013-204309
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