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Clinical manifestations:
1. Short tubular bones thickened, long tubular bones thickened and elongated, with multiple osteochondromas appearing with age;
2. Craniofacial bone deformities, localized protrusions appearing as osteoma-like outward growth;
3. Excessive growth of vertebral bodies leading to irregular morphology and scoliosis;
4. Hypertrophic changes may also occur in the ribs and scapula;
5. Soft tissue changes: multiple subcutaneous tumors, tumors without defined borders.
Proteus Syndrome – Diagnostic Criteria
In 1989 and 1994, the diagnostic criteria for “Proteus syndrome” were revised by the Walter Reed Army Medical Center and Stanford University School of Medicine in the USA. Based on the clinical manifestations of the disease, six diagnostic criteria were proposed and quantified with scores: ① Unilateral hypertrophy and/or macrodactyly 5.0 points; ② Plantar and/or palmar gyriform hyperplasia 4.0 points; ③ Lipomas and other subcutaneous tumors 4.0 points; ④ Verrucous nevi (epidermal nevi/sebaceous nevi) 3.0 points; ⑤ Macrocephaly and/or multiple exostoses of the skull 2.5 points; ⑥ Other minor anomalies 1.0 point. A total score of ≥13 points from the above six items can confirm the diagnosis of “Proteus syndrome.”
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