Proteus Syndrome

Introduction

A baby was born in a village; he had distorted limbs, and fingers. His appearance was different as his face was distorted. Some said he was the child of God, some said he was evil. Some wanted to bury the child some wanted to gift him to god.

This is a weird situation and not very frequent if we talk about this particular syndrome. This is a rare genetic disorder and when its genetic disorder, we must accept the child and not isolate him from society. Well, this situation is hypothetical, we all isolates him.

Definition

The disease is named after the Greek sea god "Proteus". He could change his shape, therefore, the name.

Proteus syndrome may be defined as a rare condition that can be characterized by the overgrowth of bones, skin and different tissues. The overgrowth that occurs is asymmetric in nature and can grow in any proportions and direction.

It is not necessary that the right side and the left side of one's body will be affected in a similar manner, they are affected differently.

The syndrome is extremely rare and occurs in 1 in a million people. There are 200 cases reported and it is estimated that only 156 people are alive in those.

The overgrowth occurs between the age of 6 and 12 and can lead to neurological dysfunctionality, loss of vision, seizures, apparent loss in intelligence.

Affected area-
If we talk in general, the pattern is very distinct and can affect any part or organs of the patient. The overgrowth of tissue may also look like a thick skin growth that have deep lesions and thick in appearance and are generally raised. The overgrown area is generally blood vessels or adipose tissue.

Also, bones in the skull, limb, and spine are affected.

Symptoms-

• They may have facial distortion, like the face may be long or short.

• There might be a low nasal bridge with bulges eyes and open mouth expression.

• There is a risk of benign tumor i.e. non-cancerous and a different type of blood clot.

• There may be the occurrence of neurological abnormalities, loss in intelligence, vision loss, seizures.

Case study-
In Michael Cohen, in 1979, Proteus syndrome was identified for the first time and it was named by Rudolf Weidmann in 1983.

The case was reported in a girl of age 3 years and 8 months. There was no family background for such disorders.It was observed she had gigantic feet, macrodactyly, there was swelling on the left side of flank, and there was multiple soft subcutaneous swelling present in the chest and abdomen. She was found to have multiple lipomas and ultrasonography of pelvis and abdomen was found to be normal.

Conclusion:
The disease is a genetic and rare disease. This occurs due to a mutation in a certain gene.
When treatment is given to such patient the aim is to minimize the dysfunctionality and increase life expectancy.

However, the life expectancy of this disease is from 9 months to 29 years and it solely depends upon the severity of the disease.