PROJERIA- An early ageing disease

Have you heard of a boy of 19 years who looks like 70 years old man…? Yes, it is true with people with an extremely rare genetic disease. Hutchinson-Gilford projeria is named after Dr Jonathan Hutchinson who described it first and Gilford (1904) who coined the term. These people show accelerated ageing process and show respiratory troubles, cardiovascular disorders and arthritic conditions.

HUTCHINSON

GILFORD

Projeria is a rare disorder affecting only one in 4 million children and only about 100 cases so far have been reported in the world.

There seem to be no cure for this disease. Most children with projeria do not live beyond their early teenage; maximum life time reported is 20 years. The trouble is due to a genetic mutation of a gene called Lamina A. the gene is responsible for producing structural proteins, lamins, which gives nucleus its shape. This gene was observed in chromosome 1 by Erikson et. al. in 2003.

FEATURES OF PROJERIA:

Ø Disproportionately large head

Ø Dwarfism

Ø Baldness

Ø Pinched nose

Ø Protruding upper incisors

Ø Incomplete extension of knees and elbows

Ø Stiffness of joints

Ø Aged look (wrinkled)