Medicine:Leri pleonosteosis
From HandWiki
| Leri pleonosteosis | |
|---|---|
| Specialty | Rheumatology |
Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri in 1921.[1]
Presentation
The clinical features of this condition include[citation needed]
- 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.[citation needed]
Genetics
It is inherited in an autosomal dominant fashion.[citation needed]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).
Diagnosis
Treatment
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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