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Proteus Syndrome
Wednesday, 03 May 2006
Wednesday, 03 May 2006

What

Proteus Syndrome is characterized by overgrowth of multiple parts of the body including the skin, bones, organs (such as the spleen), and other tissues. The signs and symptoms of this disorder can vary a great deal in terms of which parts of the body are affected, the extent or severity of symptoms and other related medical complications. Because of the variability, diagnosis and management can be challenging.

Who

Proteus syndrome is a rare genetic disorder with less than one in a million people being affected. Both males and females are affected equally and this disorder is found in all ethnicities. In affected individuals, the diagnosis was noted to occur sporadically, meaning that there was no specific inheritance pattern.

Signs and Symptoms

At birth, a child may not have the signs or symptoms of Proteus syndrome. Early on in life some babies can have signs of some overgrowth or a skin or vascular lesion. Since signs and symptoms occur gradually and progress over time the syndrome may not be apparent until late infancy. Common signs and symptoms include: • overgrowth of arms, legs, fingers, joints, face, skull, and other parts of the body • skin and soft tissue lesions (moles, darkening of patches of skin) which grow with general growth and don’t regress • eye disorders • changes of the brain • Lipomas - overgrowth of fat cells; these can be superficial or deep (in the chest or abdomen). Ones that are deeper can get very large and can be monitored with imaging studies. Other signs and symptoms include: • overgrowth of external ear • overgrowth of organs such as spleen and thymus • scoliosis – curving of the spin • growth/thickening on the soles of the feet • abnormalities of the teeth • seizures

Possible Causes

A gene, named PTEN, has been found to cause about half of the cases of Proteus syndrome. The cause of the remaining cases is not yet known. This syndrome seems to occur sporadically, meaning that it does not have a specific inheritance pattern. Because this disorder affects many different parts of the body, it is believed that the cause could be due to alterations of genes by a process termed somatic mosaicism. This means that the genetic change occurs in the different parts of the body and is not usually inherited from a parent.

Diagnosis

The diagnosis of Proteus Syndrome is made by the finding of the above signs and symptoms. Diagnostic criteria have been developed and include the sporadic nature, progressive nature and mosaic nature (different parts of the body are affect asymmetrically). The diagnosis should be confirmed by the presence of a specific number of manifestations from three different categories. One from category A (connective tissue nevi, a specific type of skin lesion), two from category B (Epidermal nevus, disproportionate overgrowth, specific tumors including ovarian cystadenomas, parotid monomorphic adenoma before the age of 20) and three from category C (lipomas- dysregulated overgrowth of fat cells or regional absence of fat tissue, abnormal changes of the different types of vessels such as capillary/venous/lymphatic cells, and specific facial features).

Treatment

Since Proteus syndrome can affect many different parts of the body, care includes multiple specialists including; orthopedist and other surgeons, dermatologists, ophthalmologists, geneticists, psychiatrist/psychologists, dentists and pediatricians. Current treatment is targeted toward symptomatic treatment of the parts of the body affected by overgrowths. Common treatment includes multiple joint surgeries, surgery for scoliosis and removal of skin and deep tissue lesions, cosmetic surgery for areas such as the jaw and teeth. Orthotics and other physical aid devices can also help the child. Because of changes in the vessels caused by Proteus syndrome and because of decreased mobility, affected children are also at risk for blood clots. It is important to also seek supportive counseling to address the emotional effects caused by the syndrome for both the child and the family.

Prognosis

Prognosis varies on an individual basis and depends on the severity of the symptoms and complications such as blood clots, pneumonias and risks associated with multiple surgeries. Approximately two out of three affected children have normal development. A child’s development depends on whether the child has seizures or changes in the structure of the brain. Physicians are trying to do more research to monitor individuals with Proteus syndrome into their adulthood to provide more information on prognosis.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Proteus Syndrome Foundation
Parent developed website in memory of her 9 year old son with Proteus syndrome which has medical articles, newsletter, conferences, family stories, and research arm to search for a cure. Phone: US Tel number 719-660-1346; email kimkhoag@adelphia.net)

Contact a Family (with disabled children)
Website from UK for families of children with any kind of disabling condition which features parent support groups, medical information, publications.

Proteus Family Network UK
A UK website focused specifically to Proteus Syndrome which has a newsletter, parent support, events, research and links to other sites.

Google Search for Proteus Syndrome

References and Sources

Pletcher, Beth A. Proteus syndrome. Emedicine; www.emedicine.com/PED/topic1912.htm Biesecker LG et al (1999). Proteus Syndrome. American Journal of Medical Genetics. 84: 389-395 Biesecker LG (2001). The Multifaceted Challenges of Proteus Syndrome. Journal of the Amercian Medical Associattion. 285: 2240-2243 Cohen MM Jr (2005). Proteus Syndrome: An Update. American Journal of Medical Genetics Part C (Semin. Med. Genet.). 137C: 38-52 Turner JT et al (2004). Reassessment of the Proteus Syndrome Literature: Application of Diagnostic Criteria to Published Cases. American Journal of Medical Genetics.130A: 111-122