The Progeria Research Foundation reports that as of March 2023, there are 193 children and young adults living with progeria or progeroid laminopathies in 51 countries across the globe. Of these children, 142 have progeria and the remaining 51 have progeroid laminopathies. But as of June 2023, the number of children with progeria has gone up by one.

Renee Ghert-Zand of The Times of Israel reported that Israel recently diagnosed the first case of progeria within the country: a young girl who is just two months old. At birth, doctors believed that the child appeared normal. However, as the next month progressed, her parents became concerned. Their daughter’s skin was hardening and tightening, especially on her chest and across her legs. She also had many of the characteristic facial features associated with this condition.

At Rambam Medical Center, located in Haifa, Israel, the parents discussed what might be happening with doctors. Dr. Hiba Zaaroura recommended genetic testing. Soon after, the family received the diagnosis: progeria. Given that no cases have ever been seen in this country previously, this diagnosis was a little frightening. But Dr. Zaaroura jumped into action. She contacted the Progeria Research Foundation for insight and guidance. Through this communication, Dr. Zaaroura and her team will gain the necessary knowledge to provide the best care to this little girl. Over the coming years, the little girl will need to undergo frequently cardiac monitoring and gastroenterology care.

Right now, the little girl is not old enough to begin lonafarnib treatment. Lonafarnib, given orally, is thought to delay the progression of progeria and to increase overall lifespan. She will be put on treatment as soon as she hits her first birthday.

About Progeria

You may also hear progeria referred to as Hutchinson-Gilford progeria syndrome (HGPS), but you can use the terms interchangeably. This extremely rare genetic disease results from mostly spontaneous LMNA gene mutations. Normally, this gene encodes for the production of lamin A. This protein protects a cell’s membrane and nucleus. In progeria, these gene mutations cause nucleus instability, which leads to features that resemble premature aging. In many cases, children appear healthy at birth. However, they typically present with failure to thrive before other symptoms appear. Symptoms and characteristics of progeria may include:

• Characteristic facial features such as:
  • A thin, beak-like nose
  • Thin lips
  • Prominent eyes
  • A small chin
  • Protruding ears
• Hair loss
• Fat loss
• Skin with an aged appearance
• Atherosclerosis (hardening of the arteries that can lead to disease)
• Joint abnormalities