Proteus syndrome is a rare genetic disorder that causes excessive, uneven growth of the bones, skin, and other tissues. This can lead to overgrowth of different limbs and organs, especially the arms, legs, skull, and spinal cord.
Symptoms are usually not noticeable at birth. However, abnormal growth often appears between 6 and 18 months of age.
This abnormal growth can lead to features such as an elongated face, downward-slanting eyes, and a mouth that is often open. Early diagnosis is important so that measures can be taken to correct deformities, improve body image, and help prevent psychological issues, such as social isolation and depression.
Main symptoms
Proteus syndrome may cause features such as:
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Asymmetric growth
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Deformities in the arms, legs, skull, and spinal cord
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Excess skin folds, usually on the soles of the feet
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Elongated face
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Downward-slanting eyes
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Low, wide nose
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Mouth that is often open
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Spinal problems, such as scoliosis
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Increased finger width, called digital hypertrophy
In addition, Proteus syndrome can cause neurological changes, such as learning difficulties, seizures, and vision loss.
Symptoms are usually not noticeable at birth, but abnormal growth often appears between 6 and 18 months of age and tends to become more severe over time.
According to the National Human Genome Research Institute, children and adults with Proteus syndrome are at risk for deep vein thrombosis (DVT), which can lead to pulmonary embolism. Proteus syndrome can also increase the likelihood of benign tumors.
Confirming a diagnosis
Diagnosis of Proteus syndrome usually begins with a pediatrician or primary care provider, who reviews the child’s medical and family history and performs a physical exam.
Referral to specialists may also be recommended, as the syndrome can affect multiple parts of the body. These may include dermatologists, orthopedists, and geneticists, who help support and confirm the diagnosis.
To confirm the diagnosis, genetic testing is performed to look for a mutation in the AKT1 gene, which identifies the alteration responsible for the uncontrolled cell growth seen in Proteus syndrome.
Proteus syndrome can be difficult to diagnose, as its signs may be confused with other conditions that cause asymmetric growth, such as congenital lymphedema or hemangiomas.
Main causes
Proteus syndrome is mainly caused by a spontaneous mutation in the AKT1 gene, which regulates cell growth, division, and death. This alteration causes some cells to grow uncontrollably, resulting in the syndrome.
According to the National Human Genome Research Institute, Proteus syndrome is caused by a mosaic mutation in the AKT1 gene, meaning the mutation occurs randomly in some cells during development rather than being inherited from the parents.
However, if there are cases in the family, genetic counseling is recommended, as there may be a higher predisposition.
Treatment options
Treatment for Proteus syndrome focuses on managing symptoms through:
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Surgery, which may be done to correct deformities, remove tumors, or improve physical appearance
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Medication, such as sirolimus, an immunosuppressant that helps limit abnormal tissue growth and reduce the risk of tumors
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A multidisciplinary team, including a pediatrician, orthopedist, dermatologist, psychologist, and other specialists, who provide support and help improve quality of life
There is no specific treatment or cure for Proteus syndrome. Therefore, treatment is focused on ongoing monitoring, preventing complications, and improving the person’s overall health.
Psychological support
Psychological support is essential for both people with Proteus syndrome and their families. It helps them understand the condition and adopt strategies that promote quality of life and self-esteem.
In addition, the psychologist can help with learning difficulties, depression treatment, emotional distress, and social interaction, contributing to overall well-being.