Babies develop and reach milestones at different ages. Does not walking by 14 months indicate a problem? Blood clotting is a normal function that occurs when you have an injury. Find out what happens if clot doesn't dissolve or forms in a blood vessel. Here are 16 of the best sunscreens on the market in spray, lotion, and solid forms, and for different needs.
They're tried and true. Everyone can benefit from a good facial cleanser, and many products are specially formulated for dry, sensitive skin. Blue lips are most often caused when something is preventing you from getting enough oxygen into your body.
Read on to discover some of the causes of…. Health Conditions Discover Plan Connect. Medically reviewed by William Morrison, M. Symptoms Causes Diagnosis Treatment Complications Outlook Overview Proteus syndrome is an extremely rare but chronic, or long-term, condition. Did you know? Symptoms of Proteus syndrome. Causes of Proteus syndrome. Diagnosing Proteus syndrome. Studies suggest that an AKT1 gene mutation is more common in groups of cells that experience overgrowth than in the parts of the body that grow normally.
In some published case reports, mutations in a gene called PTEN have been associated with Proteus syndrome. However, many researchers now believe that individuals with PTEN gene mutations and asymmetric overgrowth do not meet the strict guidelines for a diagnosis of Proteus syndrome. Instead, these individuals actually have condition that is considered part of a larger group of disorders called PTEN hamartoma tumor syndrome.
One name that has been proposed for the condition is segmental overgrowth, lipomatosis, arteriovenous malformations, and epidermal nevus SOLAMEN syndrome; another is type 2 segmental Cowden syndrome. Because Proteus syndrome is caused by AKT1 gene mutations that occur during early development, the disorder is not inherited and does not run in families. Genetics Home Reference has merged with MedlinePlus.
Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Proteus syndrome. From Genetics Home Reference. Description Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Frequency Proteus syndrome is a rare condition with an incidence of less than 1 in 1 million people worldwide. Causes Proteus syndrome results from a mutation in the AKT1 gene.
Adults with Proteus syndrome have never had any affected children. Proteus Syndrome: Frequently Asked Questions. How common is Proteus syndrome? How is Proteus syndrome diagnosed? What medical problems can Proteus syndrome cause? How is Proteus syndrome treated? How can I help my child or my family cope with this condition?
What causes Proteus syndrome? What is a "mosaic" genetic alteration? How did researchers find this gene alteration? What is the AKT1 gene and how is it altered in people with Proteus syndrome? What does this discovery mean for people with Proteus syndrome? We have a child with Proteus syndrome. What are the chances our next child will also have Proteus syndrome? Footnotes What is Proteus syndrome? There are three general characteristics or features that must be present for doctors to consider a diagnosis of Proteus syndrome: Mosaic distribution: Areas of overgrowth are patchy and that only some body parts show signs of overgrowth while others are unaffected.
Sporadic occurrence: No one else in the affected person's family has similar features of overgrowth. Progressive course: Overgrowth has noticeably altered the appearance of the affected body parts over time or that new areas of overgrowth have appeared over time. Increased frequency of infection. Predisposition to infections. Susceptibility to infection. Decreased tooth count. Kidney cyst. Increased spleen size. Squint eyes. Premature sudden cardiac death. Testicular tumor.
Enlarged thymus. Blood clot in a deep vein. Thickening of upper layer of skin. Enlargment of the facial bones. Excessive growth of facial bones. Excessive growth of facial skeleton. Increase in size of the facial bones. Overgrowth of facial bones.
Overgrowth of facial skeleton. Overgrowth of the facial bones. Strawberry mark. Asymmetric overgrowth. Thick skin of soles. Onset in first year of life. Onset in infancy. IQ between 34 and Multiple fatty lumps. Gaped jawed appearance. Gaped mouthed appearance. Slack jawed appearance. Worsens with time.
Narrow spinal canal. Pressure on spinal cord. No previous family history. Do you have more information about symptoms of this disease? We want to hear from you. Do you have updated information on this disease? Cause Cause. Proteus syndrome is caused by mutations in the AKT1 gene. These mutations are not inherited from a parent, but arise randomly in one cell during the early stages of development before birth. As cells continue to grow and divide, some cells will have the mutation and others will not.
Therefore, people with Proteus syndrome have an altered AKT1 gene only in some of their cells. This mixture of cells with and without a genetic mutation is known as mosaicism. A mutation in this gene disrupts a cell's ability to regulate its own growth, allowing it to grow and divide abnormally. The mutated gene makes an abnormal protein. This active protein is thought to increase rates of cell growth and may prevent cells from dying off when they naturally would.
Increased cell proliferation in various tissues and organs leads to the abnormal growth characteristics and to an increased risk to develop tumors. Diagnosis Diagnosis. The diagnosis of Proteus syndrome is based on clinical criteria that include three general characteristics and a specific symptom checklist. There are three general characteristics or features that must be present for doctors to consider a diagnosis of Proteus syndrome: [2] Mosaic distribution: This means that the areas of overgrowth are patchy and that only some body parts show signs of overgrowth while others are unaffected.
Progressive course: This means that the overgrowth has noticeably altered the appearance of the affected body parts over time or that new areas of overgrowth have appeared over time.
If a person has all three of these general characteristics in addition to some specific characteristics, doctors may consider a diagnosis of Proteus syndrome. The specific characteristics are grouped into three categories: A, B, and C. A diagnosis of Proteus syndrome requires all three general features to be present and either one feature from Category A, or two features from Category B, or three features from Category C: [2] [4] [5] Category A: Cerebriform connective tissue nevus, which are skin lesion characterized by deep grooves and gyrations as seen on the surface of the brain.
The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment Treatment. Each person with Proteus syndrome will have different medical needs that require individualized treatment. Many patients with Proteus syndrome are followed by several specialists such as a geneticist , a pediatrician , a dermatologist , and others.
Developmental intervention or special education is suggested for developmental delays. Because any organ or tissue can be affected, the affected person should be monitored for any possible complication. The following are recommended: monitoring for and treating vascular problems, such as blood clot thrombus that forms within a vein vein thrombosis and blockage of an artery in the lungs by a blood clot pulmonary embolism ; monitoring and treating the lung disease; and routine monitoring for evidence of tumor development with management of the skin problems, especially for the lesions known as cerebriform connective tissue nevi.
Find a Specialist Find a Specialist. Click on the link to view this search tool. To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. You can also learn more about genetic consultations from MedlinePlus Genetics. Related Diseases Related Diseases. Conditions with similar signs and symptoms from Orphanet.
Visit the Orphanet disease page for more information. Research Research. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials.
We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. Organizations Organizations.
0コメント