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Proteus Syndrome – A Disorder Named After Greek Sea God Proteus!

Greek Sea God Proteus If you are aware of Greek mythology and Greek gods, you might be wondering why Greek God Proteus’ name is sitting beside a word associated with diseases and disorders! You will be surprised to know that this particular syndrome gets its name from him, which even he wouldn’t have asked for. But how are these two linked when we know that Proteus was famous for his ability to change his shape at will? Well, that’s it! There lies the link. Before you brainstorm and visualize people changing shapes in this 21st century, let’s have a look at this ‘one of the rarest syndromes in the world’- less than 100 people have been affected so far (the recorded number of cases).

Joseph Carey Merrick, ‘The elephant man’, who caught the attention of people from 1884 due to his thick skin on forehead and lips that made his head appear abnormally heavier and distorted was thought to be suffering from neurofibromatosis (a genetic disorder). But, DNA tests conducted later proved that he was not suffering from this condition, but was affected by Proteus Syndrome. A play and a film both named “The Elephant Man” after him were directed and released in the years 1979 and 1980 respectively.

Joseph Merrick - The Elephant ManJoseph Merrick - The Elephant Man

What is it?

Proteus Syndrome is a congenital (by birth), complex disorder characterized by abnormal overgrowth of several body tissues including skin, bones, fat and connective tissue in a mosaic pattern (random pattern of affected and unaffected areas giving a ‘patchy’ appearance). In other words, it is a type of ‘overgrowth’ syndrome.

The overgrowth pattern is described as asymmetric, disproportionate, distorting, progressive and relentless.

Although some of the researchers have stated that the cause of the disorders could be genetic, it has not yet been proved. Moreover, because of the rarity of the condition (less than 100 cases known so far) its exact cause is not yet known.

Of the 50 odd recorded cases throughout the world, all of them were ‘isolated occurrences’ in their families indicating that the disorder does not run in families or it cannot be inherited from the family members.

IT has been observed that though the disorder may be present at birth, its signs and symptoms do not usually appear until a couple of years after birth in most of the cases.

Also the condition has been found to be an extremely variable one meaning the severity of symptoms ranges from individual to individual and they could be mild or severe.

Physical Manifestations of Proteus Syndrome

Here’s the list of physical symptoms of this uncommon and scary condition.

giant Leg

  • Gigantism of the limbs – Yes you can see it in the picture. The head is normal in size but the limbs are awkwardly overgrown.
  • Size enlargement of a particular organ or body or a combination of 2 or more body parts – known as hypertrophy.
  • Lipomas or overgrowth of fat in a specific area of the body or tumors of the matured fat cells.
  • Fat undergrowth in some parts.
  • Skin turns rough and appears ‘raised’, known as verrucous epidermal nevi. These nevi are pebble-like in texture, very well demarcated, streaky (striped) in appearance and may be found on the abdomen, neck or extremities.
  • Pigmented nevi or discolored, darkened, rough and raised skin.
  • Hemihypertrophy or abnormal overgrowth of any one side of the body, face or limbs.
  • Abnormally large head or macrocephaly – a skull deformity.
  • Vascular abnormalities such as patches of overgrown lymphatic or blood vessels.
  • Cerebriform connective tissue nevus or overgrowth of collagen on the soles of the feet or palms of the hand characterized by deep lines.

Apart from these visible signs, some other symptoms include:

  • DVT or Deep Vein Thromboses (blood clots) could be life threatening especially when these clots form in the lungs.
  • Tumors of different body parts including lymphangiomas (on the surface of the skin resembling tumors of the lymph glands) and subcutaneous (beneath the skin surface) are very common. Testicular tumors (affecting testicles), ovarian cystadenomas (abnormal growth formed from ovarian tissue) and multiple tumors were found in some cases.
  • Mental retardation in some patients.
  • Abnormal bone growth may lead to the ‘invasion’ of joints to an extent that the joints become immobile after a certain period of time.
  • Growth of the bones is also abnormally long in some cases, distorting the actual shape of the organ.

Detecting The Syndrome
Although it is not very difficult to diagnose this condition, considering the evident physical symptoms, some of these symptoms may be related to some other disorders as well. General diagnostic criteria include mosaic distribution of lesions and the progressive nature of the overgrowth of the body tissues.

Specific criteria have been categorized as:

  • Category A – Cerebriform connective tissue nevus.
  • Category B – Epidermal nevi and tumors such as ovarian cystadenomas.
  • Category C – Vascular abnormalities, lipomas, cysts in the lung and facial abnormalities.

These specific criteria must be met in order to confirm the diagnosis.

Treatment & Management
Treatment of this condition is often symptomatic which means that as the symptoms manifest themselves they are treated accordingly.

For example: The conservative medical treatment available for cerebriform connective tissue nevus includes regular application of antibacterial lotion to combat odor, maintaining feet hygiene and close monitoring of the feet for any infection and/or ulceration.

Skeletal defects can be corrected with the involvement of orthopedic and plastic surgeons.

In brief, the management of Proteus syndrome requires a multi-disciplinary approach involving specialists from medical branches of pediatrics, gastroenterology, pulmonology, orthopedics, surgery, radiology, dermatology and genetics.

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