Due to the damage to the bones, many affected individuals suffer from bone fractures, arthritis and occasionally short stature. Many individuals experience leathery skin where the skin appears dark and thick. Excessive hair growth is known to be found in these darker areas of the skin   (hypertrichosis). The eyes may develop a white or clear covering the cornea (corneal opacities) which can cause problems with vision. Mechanism
Winchester syndrome is believed to be inherited through autosomal recessive inheritance. It believed that this disease is caused by a nonlysosomal connective-tissue disturbance. The protein inactivation mutation is found on the matrix metalloproteinase 2 gene (MMP2). MM2 is responsible for bone remodeling. Bone remodeling is the process in which old bone is destroyed so that new bone can be created to replace it. This mutation causes a multicentric osteolysis and arthritis syndrome. It is hypothesized that the loss of an upstream MMP-2 protein activator MT1-MMP, results in decreased MMP-2 activity without affecting MMP2. The inactivating homoallelic mutation of MT1-MMP can be seen at the surface of fibroblasts. It was determined that fibroblasts lacking MT1-MMP lack the ability to degrade type I collagen which leads to anomalous function. Diagnosis
In 1989, a set of diagnostic criteria were created for the diagnosing of Winchester syndrome. The typical diagnosis criteria begin with skeletal radiological test results and two of the defining symptoms, such as short stature, coarse facial features, hyperpigmentation, or excessive hair growth. The typical tests that are performed are x-ray and magnetic resonance imaging.
Pathology
Macroscopically, splenosis manifests as individual pieces of reddish-blue tissue with variable shape, which can be as few as one and as many as 300, mostly in the abdominal cavity, and varying in size from a few millimeters to as large as 12 cm. Due to the limited blood supply to these nodules, the typical size of splenic implants is usually less than 3 cm. The implants can be separate pieces or connect to other pieces of splenic tissue by a thin stem. Histologically, the regular spleen tissue is made up of red and white pulp, similar to the structure of an accessory spleen. Clinical presentation
About a decade commonly passes between the injury and the discovery of splenosis. As little as five months and as much as 32 years have been reported. Most people with splenosis have no symptoms, so the splenosis is discovered by chance through screening or in the process of diagnosing another disease. Some people experience symptoms, such as abdominal pain, intestinal obstruction, hemorrhage, or hydronephrosis. Tissue infarction due to limited blood supply can be a cause of symptomatic splenosis. Symptoms of splenosis affecting the thoracic cavity sometimes include hemoptysis or pleurisy. Diagnosis
A definitive diagnosis is often made through biopsy and histological examination of the tissue by a pathologist. Multiple implants of splenic tissue can mimic the appearance of some cancerous conditions. This can be clarified through diagnostic imaging (for example, ultrasound, CT scan, and MRI).