Written by: Pranil Prasai - 2022012, Grade X
Posted on: 30 November, 2020
Diseases. What actually is the definition of diseases? A disorder of structure or function in a human. We have heard that some diseases are not curable. We have heard that sometimes people die because there is no treatment of the disease. Like every disease can’t be cured but we can prevent it. Talking about Progeria. It is a specific type of progeroid syndrome called Hutchinson-Gilford syndrome. What is progeroid syndrome? Progeroid syndromes are a group of diseases with premature aging. People born with progeria typically live to an age of mid-teens to early twenties. This disease was first described in 1886 by Jonathan Hutchinson. Later on it was also described in 1897 by Hastings Gilford. This condition was later named Hutchinson–Gilford progeria syndrome.
Children with progeria develop this disease just after a few months of their birth. Symptoms which are seen early is failure to thrive and causes scleroderma like skin condition. Scleroderma, a hardening and tightening of the skin on the trunk and extremities of the body.
This disease causes limited growth, hair loss and a distinctive appearance (a small face with a shallow recessed jaw and a pinched nose). Later, the condition causes wrinkled skin, kidney failure, loss of eyesight, and atherosclerosis and cardiovascular problems. The head is usually large, with a narrow, wrinkled face and a beak nose.
Hutchinson-Gilford syndrome (HPGS) is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age.Skin changes, abnormal growth, and loss of hair occur. These symptoms normally start appearing by one year of age.
There's no cure for progeria, but regular monitoring for heart and blood vessel (cardiovascular) disease may help with managing your child's condition. During medical visits, your child's weight and height is measured and plotted on a chart of normal growth values.
References:
Mayo Clinic, Feb. 01, 2018, https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043
