What Is Proteus Syndrome?
Proteus syndrome is also known as elephant man disease due to the disproportionate and asymmetrical overgrowth appearance of the condition seen in newborns. There are many parts of the body that are affected by this condition, such as connective tissue, other bony structures, and adipose tissues. The prevalence of the condition is one in 100,000 in the world. Usually, newborns with this condition are born with uneven mosaic patterns on the body. Additionally, with this condition, infants are more susceptible to other benign or malignant tumour growth in the body.
What Are the Causes of Proteus Syndrome?
Proteus Syndrome is the result of the somatic mutation in the genes responsible for growth regulation. The specific gene called AKT1 is responsible for the production of a protein that controls cell growth.
During embryonic development, the growth of the cells is responsible for the continuous growth of the organs and systems formation in the body. During this regular normal cycle of the proliferation of cells, there are other cells that are not divided in a usual manner which is called mutation of the genes. This mixture of normally proliferated cells and disrupted cells with genetic mutation is known as mosaicism.
The mutated gene disrupts regular cell multiplication and cell death. As a result, the regular growth of the cells is disturbed, causing abnormal division of the cells and overgrowth of the cells. Additionally, the genetic mutation that causes this syndrome is not inherited or runs in the family.
What Are the Signs and Symptoms of Proteus Syndrome?
There are many symptoms associated with this rare disorder, such as:
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Epidermal Nevi: It is the condition where the outermost layer of the skin shows abnormal and benign growth.
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Vascular Malformation: It is the abnormal growth of blood vessels
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Cafe Au Lait Macules: Cafe au lait macules or spots are the light or dark brown pigments seen on newborns’ skin that indicates the underlying genetic condition.
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Lipomas: Lipomas are the fatty tumours found under the skin of children owing to genetic mutations such as proteus syndrome.
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Drooping Eyelids: Due to tissue overgrowth or blood vessel growth, this symptom is found in children.
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Long and Narrow Face: The shape of the face is affected due to skin cell proliferation.
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Pulmonary Complications: Due to deep vein thrombosis, the complications such as thromboembolism, pneumonia, or respiratory distress are seen in children.
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Pulmonary Embolism: Pulmonary embolism is one of the most common symptoms or complications associated with this syndrome where blood clots are wedged into the blood vessels causing the complications.
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Deep Vein Thrombosis: Owing to vascular malformation, there are chances of the formation of blood clots in the veins that can cause many life-threatening complications.
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Hyperostosis: It is the condition where the outer portion of the bones is abnormally and asymmetrically enlarged.
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Scoliosis: Scoliosis is the condition where the spinal cord is curved on the side, causing cerebral palsy and muscular dystrophy.
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Benign and Malignant Tumor: It is another type of common complication seen associated with this syndrome. Due to abnormal overgrowth of the cells, the children may or may not have this condition in any area of the body or organ.
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Verrucous Lesions: It is a highly treatable type of cancer showing keratin-filled plugging.
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Abnormal Enlargement of the Organs: An abnormal growth of the cells causes the enlargement of the associated organs.
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Wide Nostrils: It is one of the signs of this syndrome.
How to Diagnose Proteus Syndrome?
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Physical Examination: This is the most important and primary step of the diagnostic method. Parents or caregivers should always look for any abnormal growth in any area of the child’s body and seek medical attention immediately. The site of the growth can be essential for further treatment.
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Genetic Testing: Although this is not a genetically inherited condition, genetic testing can be very helpful in diagnosing the treatment early.
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Biopsy: A tissue sample can be very helpful for diagnosing other complications associated with this syndrome, or it can be useful for genetic testing as well.
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Radiography: This shows any abnormal growth of the bones and its involvement and progression with severity.
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Computed Tomography (CT) Scans: This diagnostic method is useful for the investigation of soft tissues, blood vessels, and various bony structures.
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Magnetic Resonance Imaging (MRI): Since the overgrowth of the blood vessel can create brain damage, this diagnostic method can investigate the situation.
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Ultrasound: The high-frequency sound waves are used to diagnose any abnormality or damage to the internal organs of the body.
What Are the Complications Associated With Proteus Syndrome?
Since the syndrome is associated with cell overgrowth, there are a plethora of complications seen associated with this disorder. Such as:
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Benign and Malignant Tumor: It is another type of common complication seen associated with this syndrome. Due to abnormal overgrowth of the cells, the children may or may not have this condition in any area of the body or organ.
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As the proliferation of the cells can be anywhere in the body, the child may face issues like restricted movement due to the involvement of the legs, hands, or joints. Overgrowth of the bone is the main cause of this condition in children. Also, if there are tumors in the body, it can cause pressure on the organs or nerves, causing insufficient blood supply or organ damage.
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Similarly, if the growth is seen near nerves, it can cause permanent or temporary damage to the nerves, causing seizures, vision loss, hearing loss, or abnormal mental development.
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Deep Vein Thrombosis: Owing to vascular malformation, there are chances of the formation of blood clots in the veins that can cause many life-threatening complications. If the child faces complications such as deep vein thrombosis, the blood vessels can also be affected by this. In this condition, the clot can break and travel through the body, causing damage to the arteries, known as embolism. The blockage and damage of the blood flow can create a life-threatening situation in children.
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Pulmonary Embolism: This is one of the most common symptoms or complications associated with this syndrome, where blood clots are wedged into the blood vessels causing the complications.
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Pulmonary Complications: Due to deep vein thrombosis, the complications such as thromboembolism, pneumonia, or respiratory distress are seen in children.
How to Manage Proteus Syndrome?
The treatment of the syndrome is symptoms and specific signs. If the child has multiple overgrowths on the body, there are chances of an increase in overgrowth. In some conditions where there are joints, and bone deformities that are the result of cell overgrowth, multiple orthopaedic surgeries are recommended. If the bone plates have an overgrowth of cells in some areas, ablation of growth plates (epiphysiodesis) is recommended.
As children with Proteus syndrome are more susceptible to deep vein thrombosis, doctors should be aware of this condition during or after the surgeries. Moreover, owing to some reasons, doctors should recommend antithrombotic prophylaxis to prevent complications of blood clots in individuals.
There are also chances of multi-organ or multi-system involvement, so parents should be aware of taking their child to other specialists recommended by their paediatricians. Other specialists that can help with the treatment of this syndrome are cardiologists, dermatologists, pulmonologists, orthopaedic surgeons, physiotherapists, and psychologists.
Conclusion:
Even though the condition is rare and inherited, the complication associated with Proteus syndrome is fatal. The caregivers or parents should seek immediate healthcare on the spotting of any abnormal growth or classic signs. As there is no cure for this disorder, it is wise to go for medical treatment as soon as possible. Also, the parents should never neglect the importance of post-surgical or regular follow-up visits to the doctors as recommended.
