Winchester syndrome: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | |||
* Multiple, painless, subcutaneous nodules | |||
* Pain due to [[fractures]] | |||
* Vision problems | |||
* Joint pains | |||
===Physical examination=== | |||
====Appearance of the patient==== | |||
The main characteristics are [[short stature]], marked [[contracture]]s of joints, opacities in the [[cornea]], a coarse face, dissolution of the [[carpal]] and [[tarsal]] bones (in the hands and feet respectively) and [[osteoporosis]]. Increased [[uronic acid]] was demonstrated in cultured [[fibroblast]]s from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a [[mucopolysaccharidosis]].<ref name="pmid4238825"/> | The main characteristics are [[short stature]], marked [[contracture]]s of joints, opacities in the [[cornea]], a coarse face, dissolution of the [[carpal]] and [[tarsal]] bones (in the hands and feet respectively) and [[osteoporosis]]. Increased [[uronic acid]] was demonstrated in cultured [[fibroblast]]s from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a [[mucopolysaccharidosis]].<ref name="pmid4238825"/> | ||
Revision as of 13:57, 27 July 2012
| Torg-Winchester syndrome | |
 | |
|---|---|
| Matrix Metalloproteinase 2 | |
| OMIM | 259600 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Synonyms and keywords: Torg-Winchester syndrome, Nodulosis-arthropathy-osteolysis syndrome, NAO syndrome, Torg syndrome
Overview
Winchester syndrome in a rare congenital connective tissue disease.
Historical perspective
It was first described in 1969.
Pathophysiology
Winchester syndrome is an autosomal recessive connective tissue disorder caused by mutations in the matrix metalloproteinase 2 (MMP2) gene.[1] A 2006 study showed other mutations in the same gene, and observed that Winchester syndrome is probably part of a continuum that also includes Torg syndrome and nodulosis-arthropathy-osteolysis syndrome (NAO).[2]
Differentiating from other diseases
Winchester syndrome should be differentiated from rheumatoid arthritis.[3]
Diagnosis
Symptoms
- Multiple, painless, subcutaneous nodules
- Pain due to fractures
- Vision problems
- Joint pains
Physical examination
Appearance of the patient
The main characteristics are short stature, marked contractures of joints, opacities in the cornea, a coarse face, dissolution of the carpal and tarsal bones (in the hands and feet respectively) and osteoporosis. Increased uronic acid was demonstrated in cultured fibroblasts from the skin and to a lesser degree in both parents. Despite initial tests not showing increased mucopolysaccharide excretion, the disease was regarded as a mucopolysaccharidosis.[3]
References
- ↑ Zankl A, Bonafé L, Calcaterra V, Di Rocco M, Superti-Furga A (2005). "Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2". Clin. Genet. 67 (3): 261–6. doi:10.1111/j.1399-0004.2004.00402.x. PMID 15691365.
- ↑ Rouzier C, Vanatka R, Bannwarth S; et al. (2006). "A novel homozygous MMP2 mutation in a family with Winchester syndrome". Clin. Genet. 69 (3): 271–6. doi:10.1111/j.1399-0004.2006.00584.x. PMID 16542393.
- ↑ 3.0 3.1 Winchester P, Grossman H, Lim WN, Danes BS (1969). "A new acid mucopolysaccharidosis with skeletal deformities simulating rheumatoid arthritis". Am J Roentgenol Radium Ther Nucl Med. 106 (1): 121–8. PMID 4238825.