Health · Medical Research · 2 hrs ago
Skin signs may be an early clue to rare diseases
About one in four rare diseases causes skin symptoms, and more than 1,000 rare diseases involve the skin.
Signs can include skin lesions present from birth or early childhood, and recurring blisters or sores.
Dermatologists may be the first specialists to spot these signs, helping guide tests and care.
Across rare diseases, people wait an average of four to five years between their first symptoms and diagnosis.
Research has brought targeted treatments and advanced therapies, including a topical gene therapy authorized for some forms of epidermolysis bullosa, a genetic disease that makes skin extremely fragile.
In the United States, a treatment using patients’ genetically corrected skin cells has also been authorized, and clinicians hope these therapies will become available in Italy.
Unequal access to diagnosis and treatment remains a challenge, with high therapy costs and the need for better care transitions from childhood to adulthood.
About one in four rare diseases is estimated to cause skin symptoms, and more than 1,000 rare diseases involve the skin.
Skin signs can be the first clue to a rare disease, and early recognition can help guide diagnosis and patient care.
The average delay between the first symptoms and diagnosis of a rare disease is four to five years.
Some epidermolysis bullosa treatments include topical gene therapy and genetically corrected skin cells, but access to advanced therapies remains unequal.
A transition from paediatric to adult care is another challenge for people with rare diseases.
- Who
- People with rare diseases and those involved in their diagnosis and care, including dermatologists.
- What
- Skin signs may provide an early clue to a rare disease. About one in four rare diseases is estimated to cause skin symptoms.
- When
- The article was published on 10 November 2026.
- Where
- The figures cover the world, Europe and Italy; the article also discusses treatment access in Italy and the United States.
- Why
- Recognising symptoms early can help guide diagnosis and patient care, amid an average diagnostic delay of four to five years.
This story does not have two clearly opposing sides.
This story does not have a timeline yet.
- Skin symptoms
- About one in four rare diseases
- Rare diseases involving skin
- More than 1,000
- Average diagnostic delay
- Four to five years
- Rare diseases worldwide
- 6,000–8,000 known; about 300 million people affected
- Rare diseases in Europe
- About 30 million people affected
- Rare diseases in Italy
- About 2 million people affected
What people are saying
The dermatologist is often the first specialist to recognise the signs of a rare disease
We hope they can soon be available in Italy too