Winchester syndrome

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.

External links

Rare diseases: Winchester syndrome

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[pmid15691365-1] 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.

[pmid16542393-2] 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.

[pmid4238825-3] 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.

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