Winchester syndrome: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
Winchester syndrome is an [[autosomal recessive]] connective tissue disorder | Winchester syndrome is an [[autosomal recessive]] connective tissue disorder caused by [[mutation]]s in the [[MMP2|matrix metalloproteinase 2]] (''MMP2'') gene.<ref name="pmid15691365">{{cite journal |author=Zankl A, Bonafé L, Calcaterra V, Di Rocco M, Superti-Furga A|title=Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2 |journal=Clin. Genet. |volume=67 |issue=3 |pages=261–6 |year=2005 |pmid=15691365 |doi=10.1111/j.1399-0004.2004.00402.x}}</ref> 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).<ref name="pmid16542393">{{cite journal|author=Rouzier C, Vanatka R, Bannwarth S, ''et al'' |title=A novel homozygous MMP2 mutation in a family with Winchester syndrome|journal=Clin. Genet. |volume=69 |issue=3 |pages=271–6 |year=2006 |pmid=16542393 |doi=10.1111/j.1399-0004.2006.00584.x}}</ref> | ||
==Differentiating from other diseases== | ==Differentiating from other diseases== | ||
| Line 33: | Line 33: | ||
==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | |||
* Multiple, painless, subcutaneous nodules | |||
* Pain due to [[fractures]] | |||
* Vision problems | |||
* Joint pains | |||
===Physical examination=== | |||
====Appearance of the patient==== | |||
The characteristic features include [[short stature]] with coarse facial features. | |||
====Head==== | |||
Coarse face | |||
====Eye==== | |||
Opacities in the [[cornea]] | |||
====Extremities==== | |||
Marked [[contracture]]s of joints | |||
===Lab tests=== | |||
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"/> | |||
===Imaging=== | |||
====X-ray==== | |||
* Dissolution of the [[carpal]] and [[tarsal]] bones (in the hands and feet respectively) | |||
* Characteristic widening of the metacarpal and metatarsal bones | |||
* [[Osteoporosis]] and bone thinning | |||
==References== | ==References== | ||
Latest revision as of 18:41, 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 characteristic features include short stature with coarse facial features.
Head
Coarse face
Eye
Opacities in the cornea
Extremities
Marked contractures of joints
Lab tests
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]
Imaging
X-ray
- Dissolution of the carpal and tarsal bones (in the hands and feet respectively)
- Characteristic widening of the metacarpal and metatarsal bones
- Osteoporosis and bone thinning
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.