Winchester Syndrome Differential Diagnoses

Updated: Jun 13, 2022
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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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.