Progeria, also known as the Hutchinson-Gilford syndrome, is a rare genetic illness which causes premature aging. One of four million children suffers from this disease. Nowadays, it is estimated that 250 kids have progeria but there are no more than 80 cases known.
This disease causes premature aging of the body. Affected children do not have a normal development and their body ages eight times faster than usual. Because of this, their body gets several illnesses and problems related to an old age, which will later produce a premature death. There is no cure known for this disease.
The Diagnosis is carried out in the clinical picture because the laboratory results show no abnormalities, apart from an increase in hyaluronic acid, eliminated by urinary tract.
The clinical picture that leads to a diagnosis of childhood progeria is based on some characteristic anomalies in the child, in particular:
- Dry, thin skin, wrinkled and with prominent veins. You can assume a brown color to pieces especially after exposure to the sun.
- Alopecia, baldness and the tendency to early hair loss.
- Low weight and absence of subcutaneous fat.
- Short stature. Very rarely, the patient’s final height is higher than that of a 5-year-old child.
- Micrognathia, which is a reduction in the development of the jaw with respect to the maxilla with dental wrong position.
- Craniofacial disproportion.
- Eyes that protrude with blue sclera and opacity of the cornea.
- Protuberant abdomen and tightness in the chest.
A famous case was a girl called Hayley Okines, who died of pneumonia in 2015. She was 17 years old and she frequently traveled to Boston to receive new treatments for the different illnesses her body suffered from. She also wrote a book about her experience called Old before my time.
Written by Valentino Rienti, Martina Monti and Lara Ferrando, Pre First Certificate.