The Clouston Syndrome

A rare genetic disorder in a Madasa family

Scanty or total absence of hair. Abnormal nails. Skin thicker than the norm.

Any or all of these would pass without comment, wouldn't it?

It shouldn't. For all three are symptomatic of a rare genetic disorder, 'The Clouston Syndrome' -- and it has been detected in a family from Madasa, a town in north Gujarat in western India.

Significantly, the family traces the disorder back five generations.

The syndrome was spotted as a result of research which is the first of a kind in India and perhaps the second such instance in the world. First spotted by Madasa-based skin specialist Dr Timir Mehta, the symptoms were then researched by a team of doctors consisting of Uppala Radhakrishnan, Jean-Louis Blouin, Professor Stylianos Autonarakis and Hamid Merchant, of the Geneva Medical School and the University of Geneva, Switzerland, besides endocrinologist Dr Jayesh Sheth, geneticists Dr Frenny Sheth of Ahmedabad and Dr Jitendra Solanki of the Anand Veterinary College.

The last five generations of the family, comprising 127 individuals, was studied and 41 of them found to be affected, inclusive of 12 males and 29 females.

The disorder, rare in India, is often noticed among the French-Canadian population in northern America and is usually noticeable from the time of birth. The affected children have sparse or no eye-brows, pale and brittle hair, dystrophic nails and and overgrown skin on the palms and soles.

"We used the genetic library on the Internet, and also contacted Dr Radhakrishnan at Geneva University, which is a centre of the Humangenome Project, USA," recalls Dr Jayesh Seth. "Canadians succeeded in locating the region where the gene responsible could be traced to, only a month ahead of us -- perhaps because the family pedigree that they studied was considerably smaller than the one we were studying."

Gene therapy will, at some stage in the future, make treatment of the disorder possible, Seth believes. Once the gene causing the problem is identified, it will be possible to figure out whether the disorder takes place because of deletion or duplication of a particular gene, he adds -- and that will be the first step in finding a cure.

Dr Frenny Sheth, who went to Geneva to join the research team there, meanwhile says: "DNA was isolated from the blood samples of the patients, and it was discovered that males and females are equally affected."

Meanwhile in March, testing of amniotic fluid obtained from pregnant women bearing the disorder revealed that their foetuses also showed signs of the same abnormality. However, besides these external symptoms, no other deformities external or internal are being reported.

Interestingly, the growth of skin on the palms and feet produces a peculiar situation for the affected family -- farmers by heredity, they find they cannot work in the fields because of the condition.