VIDEO: Man’s 220 Lbs Leg Keeps Him Prisoner in His Own Home

A rare genetic mutation has caused this man’s leg to swell to a debilitating 100kg (220lbs) – more than five times its normal size.

Arun Rajasingh, from Chennai in southern India, was diagnosed two years ago with segmental overgrowth syndrome.

The condition has affected him since birth and has worsened over time, leaving him housebound for the last five years.

According to Wikipedia, overgrowth syndromes in children constitute a group of rare disorders that are typical of tissue hypertrophy. Individual overgrowth syndromes have been shown to overlap with regard to clinical and radiologic features. The details of the genetic bases of these syndromes are unfolding. Any of the three embryonic tissue layers may be involved.

The syndromes may manifest in localized or generalized tissue overgrowth. Latitudinal and longitudinal growth may be affected. Nevertheless, the musculoskeletal features are central to the diagnosis of some syndromes such as Proteus syndrome. The time of presentation of children with overgrowth syndromes is an important contributor to the differential diagnosis.

Children with some overgrowth syndromes such as Klippel-Trenaunay-Weber syndrome can be readily detectable at birth. In contrast other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period characteristically between the 2nd and 3rd year of life.

In general, children with overgrowth syndromes are at increased risk of embryonic tumor development.

According to gopi3ks.com, segmental overgrowth describes a condition where there is an excess of growth in different parts of the body, but normal growth elsewhere.

Examples of segmental overgrowth conditions include: PIK3CA related overgrowth spectrum (PROS); Congenital lipomatous overgrowth, vascular malformations, epidermal naevi and skeletal abnormalities (CLOVES); Macrodactyly; Macrocephaly-capillary malformation (M-CM); Proteus Syndrome; Klippel-Trenauney Syndrome (KTS).

The underlying cause of many of these conditions are genetic changes in the genes important for controlling growth e.g PIK3CA, PIK3R2, AKT1, AKT3 and mTOR. The gene changes are not inherited or passed on to children, and are only found in the parts of the body that are affected by the overgrowth.

Patients may have overgrowth of any part of their body. This could be an enlarged toe, finger, arm or leg, or more extensive overgrowth affecting both legs, the brain or one side of the the body.

Tissues in the body affected my include fat, muscle, bone, blood vessels, skin and nerves. For most patients, overgrowth is present at birth or develops in early childhood and for some the growth will slow down or stop in early adulthood, but for others the growth may carry on into adult life.

Surgery is the only available treatment at present. In the future, it is possible that tablets could become available to help slow the growth. These tablets are currently under investigation in a laboratory setting, with plans for clinical trials in the next few years.

To get tested for these gene changes, doctors will need to look at genes in the affected tissue and this may involve taking a small skin biopsy. You can speak to your local doctor about getting tested, or alternatively contact a research group with a special interest in segmental overgrowth.