Leri pleonosteosis

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Leri pleonosteosis
Specialty Rheumatology

Leri's pleonosteosis is a rare rheumatic condition. It was first described by the French physician Leri in 1921. [1]

Contents

Presentation

The clinical features of this condition include[ citation needed ]

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. [2] The pathogenesis of this condition appears to be due to over expression of two genes: GDF6 and SDC2. [3] These genes are located on the long arm of chromosome 8(8q22.1). [4]

Diagnosis

Diagnosis for Leri pleonostosis can be made by clinical evaluation, taking patient history, characteristic physical findings, and imaging. [5]

Treatment

Treatment of Leri pleonostosis is based on the symptoms of the affected individual, and can include physical therapy and genetic counseling. [5]

References

  1. ↑ Leri A (1921) Une maladie congenitale et hereditaire de l'ossification: la pleonosteose familiale. Bull Mem Soc Med Hop Paris 45: 1228-1230
  2. ↑ "Leri pleonosteosis". Genetic and Rare Diseases Information Center. Retrieved 2025-09-03.
  3. ↑ 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
  4. ↑ Gagliano, Antonella; Pironti, Erica; Cucinotta, Francesca; Galati, Cecilia; Maggio, Roberta; Alquino, Maria Ausilia; Di Rosa, Gabriella (2018). "8q22.1 Microduplication Syndrome: Why the Brain Should Be Spared? A Literature Review and a Case Report". Case Reports in Medicine . 2018: 1–6. doi: 10.1155/2018/3871425 . ISSN   1687-9627. PMC   6079567 . PMID   30123278.
  5. 1 2 "Leri Pleonosteosis - Symptoms, Causes, Treatment". National Organization for Rare Disorders . 2008-04-25. Retrieved 2025-09-03.
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