Causes
In Proteus syndrome, abnormal and excessive growth of tissues is caused by a spontaneous mutation in the AKT1 gene.
Symptoms
Affected individuals may experience a variety of symptoms associated with Proteus syndrome, including:
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Asymmetry and disproportionate growth of body parts caused by excessive bone and soft tissue growth.
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Skin with deep grooves and irregular patches.
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Bone and soft tissue tumors develop.
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Polydactyly and enlarged limbs are abnormalities of the hands and feet.
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There are a variety of vascular malformations, including varicose veins and lymphatic abnormalities.
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Some individuals may have intellectual disability, but it is not universal.
Diagnosis
Proteus syndrome is typically diagnosed by:
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Examination of the physical characteristics of the condition, such as asymmetrical growth and abnormalities of the skin.
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Testing for the AKT1 gene mutation associated with Proteus syndrome.
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Bone and soft tissue abnormalities can be evaluated using imaging studies such as X-rays, MRIs, and CT scans.
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A biopsy is performed to confirm the presence of characteristic histopathological features associated with the Proteus syndrome.
Treatment
Depending on the specific manifestations and severity of the disease, treatment options for Proteus syndrome may include:
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Surgery to remove tumors, correct skeletal deformities, and address overgrowth of bones and soft tissues.
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Patients with vascular abnormalities can use these medications to manage pain, control excessive tissue growth, and reduce the risk of blood clots.
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In cases where musculoskeletal abnormalities affect movement, physical therapy helps improve mobility and function.
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Support and counseling for individuals and families living with Proteus syndrome.
Prevention
In spite of the fact that Proteus syndrome is caused by a spontaneous mutation, there are currently no known methods for preventing it. However, early diagnosis and intervention can help manage symptoms and improve quality of life for people affected by this condition.
