Diagnostic Considerations
The differential diagnosis of Winchester syndrome includes Hajdu-Cheney syndrome [24, 25] and the diseases described below. [8]
Juvenile rheumatoid arthritis
Juvenile rheumatoid arthritis (JRA) is also known as Still disease. An increased erythrocyte sedimentation rate, a positive rheumatoid factor test, the presence of rheumatoid nodules, the pattern of bone destruction, and painful periarticular inflammation help to differentiate JRA from Winchester syndrome.
Idiopathic multicentric osteolysis
Idiopathic multicentric osteolysis (IMO) has many synonyms, including hereditary multicentric osteolysis, carpal and tarsal osteolysis, acro-osteolysis, and idiopathic multicentric osteolysis. [26, 27, 28, 29] Tyler and Rosenbaum divided this disorder into 2 groups: (1) multicentric osteolysis with nephropathy and no hereditary tendency and (2) hereditary multicentric osteolysis inherited as an autosomal dominant trait. These authors excluded Gorham massive osteolysis because of its unicentric nature because it is often preceded by trauma, and because it may be a manifestation of aggressive hemangiomatosis or lymphangiomatosis. [30]
According to Kozlowski et al and Lemaitre et al, specific radiologic findings should be the major criteria for classification of this disease. [31, 32] The clinical presentation, the pattern of bone lysis, and the laboratory findings differentiate IMO from Winchester syndrome, although some authors classify Winchester syndrome as a type of IMO. [8]
Juvenile hyaline fibromatosis
Juvenile hyaline fibromatosis is an autosomal recessive disorder with skin lesions that consist of multiple tumors in the face, palate, ears, and neck; gingival hyperplasia; joint contractures; and bone changes. Histologic findings from skin biopsy specimens are pathognomonic. [33, 34, 35, 36] This disorder may result from mutations in the anthrax toxin receptor 2 gene (ANTXR2) located on 4q21. [37] Infantile systemic hyalinosis has overlapping features with juvenile hyaline fibromatosis and must also be considered in the differential diagnosis of Winchester syndrome. [38]
Infantile systemic hyalinosis
Infantile systemic hyalinosis is an allelic variant of juvenile systemic hyalinosis. [39] It tends to affect infants of consanguineous parents in Arab countries, with painful joint contractures, cutaneous hyperpigmentation, and recurrent infections.
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(A) Case 1. Girl aged 2.5 years. Destruction of the carpal ossification centers that have appeared early is visible. (B) Case 1. Girl aged 6 years. The carpals are totally destroyed, and erosion of the proximal metacarpals is seen. The phalanges are expanded and appear cystic. Destructive arthritis is observed in the metacarpal, phalangeal, and interphalangeal joints. (C) Case 1. Girl aged 12 years. Only small portions of the metacarpals remain, and destruction of the phalanges of the fifth finger has occurred. The distal radius and ulna are flared. Courtesy of Patricia Winchester, MD, Departments of Radiology, Pediatrics, and Medicine, Cornell University Medical College and the New York Hospital, Cornell Medical Center, 525 East 68th Street, New York, NY 10021.
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Case 1. Girl aged 12 years. The knees are ankylosed. The ends of the long bones are flared. The bone density is markedly diminished. The left distal fibula is eroded. Destruction of the small bones of the foot is seen. Courtesy of Patricia Winchester, MD, Departments of Radiology, Pediatrics, and Medicine, Cornell University Medical College and the New York Hospital, Cornell Medical Center, 525 East 68th Street, New York, NY 10021.
Tables
Clinical Feature |
Winchester et al, 1969 [2] |
Nabai et al, 1977 [5] |
Irani et al, 1978 [6] |
Dunger et al, 1987 [7] |
Prapanpoch et al, 1992 [8] |
|||||
Case 1 |
Case 2 |
Case 1 |
Case 2 |
Case 3 |
Case 1 |
Case 1 |
Case 1 |
Case 2b |
Case 1 |
|
Sex |
F |
F |
F |
F |
M |
M |
M |
F |
F |
F |
Age |
12 y |
3.5 y |
9.5 y |
8 y |
22 y |
3 mo |
4 y |
2 |
16 y |
40 y |
Onset |
2 mo |
1 y |
1 y |
1 mo |
1 y |
1 mo |
1 y |
1 mo |
1 y |
ND |
Consanguinity |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
No |
Yes |
ND |
Skin changes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Coarse face |
Yes |
Yes |
No |
No |
Yes |
Otherc |
No |
Yes |
Yes |
Yes |
Thickened facial skin |
No |
No |
Yes |
Yes |
Yes |
Yes |
No |
Yes |
No |
Yes |
Hyperpigmented patches |
No |
No |
Yes |
Yes |
Yes |
Yes |
Yes |
No |
No |
No |
Skin nodules |
No |
No |
Yes |
No |
No |
No |
No |
Yes |
No |
No |
Corneal opacity |
Yes |
Yes |
Yes |
Yes |
Yes |
No |
No |
No |
No |
Yesd |
Gum hypertrophy |
Yes |
Yes |
Yes |
Yes |
ND |
Yes |
No |
Yes |
Yes |
No |
Short stature |
Yes |
Yes |
Yes |
Yes |
Yes |
No |
ND |
Yes |
Yes |
Yes |
Flexion contractures |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Osteoporosis (visible on radiographs) |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Yes |
Osteolysis of the carpal and tarsal bones |
Yes |
Yes |
Yes |
Yes |
Yes |
No |
Yes |
Yes |
Yes |
Yes |
Abnormal test resultse |
No |
No |
No |
IgM |
IgM |
IgMf |
No |
Yesg |
Yesg |
No |
Patient location |
USA |
USA |
Mexico |
Mexico |
Mexico |
Iran |
India |
Iranh |
Indiah |
USA |
a Winter, 1989; completed by Urban. ND indicates no data. b Additional clinical details obtained at repeat examination by Winter. c Upper lip was hypertrophic. d Glaucoma was present. e Increased immunoglobulin M (IgM) levels were observed. f Increased para-amino-isobutyric acid, leucine, and proline levels in the urine. g Abnormal oligosaccharide in the urine. h Cases reported in Great Britain. |
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