Winchester Syndrome Workup

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

Morphologic and biochemical examinations of the blood show that the following values are within the reference range in Winchester syndrome (WS) patients:

  • White blood cell count

  • Red blood cell count

  • Erythrocyte sedimentation rate

  • Alkaline phosphatase level

  • Calcium level

  • Phosphate level

  • Potassium level

  • Blood glucose level

  • Urea concentration

  • Rheumatoid factor

No specific morphologic or biochemical examinations provide results that are characteristic of Winchester syndrome.

For a better understanding of the nature of this disease, studies should be conducted to assess the urine for abnormal oligosaccharides [7] and increased para-amino-isobutyric acid, leucine, and proline levels. [5]

Determinations of IgM serum levels, [4, 5] rheumatoid factor tests, and other examinations are indicated to rule out rheumatoid arthritis.

The organic acid and mucopolysaccharide screening tests of the blood and urine are indicated to exclude mucopolysaccharidoses and mucolipidoses. [8]


Imaging Studies

Radiologic examination of the skeleton demonstrates generalized osteoporosis with progressive osteolysis in the carpal and tarsal bones. The intensity varies depending on the patient's age and the duration of the disease.

Radiographs of the long bones of the limbs show cortical thinning with widening of the marrow cavity and metaphyses. Also present is flattening of the epiphyses, which have an irregular shape and visible erosions on the surfaces. These changes result in ankylosis of the elbows, knees, and other joints.

Radiographs of the hand bones show osteoporosis of the phalangeal and metacarpal bones, which are enlarged in a cystic manner, with visible destruction of the interphalangeal and metacarpophalangeal joints.

Destructive changes of the hand bones with strong resorption and even osteolysis of the carpal bones and proximal part of the metacarpals can result in ankylosis. [2, 3, 4, 9]

The radiographic changes observed in a 40-year-old female patient included the following: ankylosis between the radius and all the carpal bones, fusion of the carpals and metacarpals, and penciling and resorptive deformities of all the phalanges. [8] Analogous osteoporotic and osteolytic changes were found in the tarsal, metatarsal, and phalangeal bones.

Intense osteoporosis in the vertebral bodies causes compressive fractures and vertebral curvatures; in the pelvic bones it causes deformation of the plate and hip joints. [2, 8]

A case report documented the progression of radiological findings over a 23-year period. [40]


Histologic Findings

Microscopic findings

In biopsy samples of leathery and hyperpigmented skin obtained from children aged 8 and 9.5 years, Cohen et al found characteristic changes in the deeper parts of the skin. [9] The epidermis is normal, without atrophic changes. An increased amount of melanin was found only in cells of the basal layer. The dermis of the papillary, subpapillary, and medial layers had a mild inflammatory infiltration with features of chronic infection and an increased number of mast cells.

No pathologic changes were found in the collagen fibers. Elastic fibers were numerous. Within the deeper part of the dermis, down to the subcutaneous tissue, a diffuse proliferation of fibroblasts was observed, and collagen bands surrounded the skin appendages without causing their damage. Staining with periodic acid-Schiff (PAS), methylene blue, and colloidal iron did not reveal abnormal mucopolysaccharides or other pathologic substances. [9]

In the case of the 22-year-old man in whom the disease had a chronic course, a biopsy sample obtained from the upper arm showed a diffuse and somewhat hypocellular and dense homogenization of the collagen that extended from below the reticular dermis to the subdermal adipose tissue. [9]

Ultrastructural findings

Electron microscopic examinations of fibroblasts obtained from both pathologically changed skin and healthy skin, as well as from hypertrophic gums, showed the following changes: dilated and vacuolated mitochondria, varying amounts of myofilaments in the cytoplasm, and a prominent fibrous nuclear lamina. [9] The described ultrastructural changes were visible only in fibroblasts. The changes were not found in other cells (eg, endothelial cells, mast cells, marrow cells, chondrocytes).