Researchers hope to find ways to treat and relieve symptoms of blistering skin disease
Holding a fork or a spoon is painful,
and walking a short distance causes
painful blisters to form on the
soles of the feet.
It is unthinkable, but this is what
children suffering from epidermolysis
bullosa (EB) – a rare genetic
skin-blistering condition, have to
go through in the course of their daily
Those afflicted are called “butterfly
children” because of how fragile
their skin is, in the same way that
butterflies have fragile wings. The
congenital condition prevents skin
layers from bonding (see report below).
It affects children in at least 30
Children with the condition develop
big blisters on various parts
of their body. The blisters have to
be broken and then drained before
they are wrapped upin bandages.
“It’s most prominent with the
children because they have very
fragile skin,” said Professor Birgitte
Lane, executive director of the
Agency for Science, Technology
and Research’s (A*Star) Institute
of Medical Biology (IMB). She is the
principal investigator of IMB’s Epithelial
“They are covered in sores most
of the time because the skin just
comes off. Almost every single action
that they do in normal life is going
to cause them pain unless they
are very careful with their skin,”
There is currently no treatment
for the rare condition, but researchers
at A*Star hope their work will
eventually come up with a drug for
Prof Lane, a skin specialist
known for her work on keratin proteins
and genetic skin conditions,
is working with other scientists to
findways to treat these diseases.
In particular, the IMB scientists
are studying EB simplex – which accounts
for about 70 per cent of all
EB cases in Singapore.
In their lab, the scientists have
made skin cells that carry the gene
causing the blistering disorder, and
are using these cells to search for
compounds that may improve the
resilience of these disease cells. So
far, more than 100 drugs and compounds
have been tested.
Prof Lane said the lab is now focusing
on a handful of drugs that
are showing promising results for
“In these early stages, we cannot
predict which drugs will be suitable
for testing on the patients. There
are many stages of testing safety
and efficiency in the laboratory before
the drugs can be tested on patients,”
added Prof Lane.
The team hopes to start clinical
trials soon and this will most likely
take place in collaboration with hospitals
Since the 1990s, as many as 18
causative genes have been identified,
leading to improvements in
the diagnosis of EB.
Dermatologist Lynn Chiam from
the Mount Elizabeth Novena Hospital
said studies are under way to
find better ways to treat and relieve
the symptoms of EB.
These include bone marrow
transplants and other treatments
that can help blisters and wounds
to heal faster.
“Some therapies under study
may also lead to a marked reduction
of blisters and improved quality
of life,” added Dr Chiam.
Student Ira Jain, who suffers
from EB, said any treatment that
strengthens the skin would help improve
her quality of life.
The 17-year-old, who does the International
Programme at St Joseph’s Institution,
did an internship at IMB in January
last year. She learnt about the
genetic reasons for her skin condition
and how to grow human skin
cells in vitro.
“EB patients are usually not able
to walk more than very short distances
without blistering on the
soles of their feet. The heat and humidity
make this condition doubly
worse,” said Ira. On hot days, she is
unable to walk more than 50m.
“Any treatment that strengthens
the skin would delay the formation
of blisters and extend the range of
my mobility. I would be more able
to walk around and run as I would
not have to focus on when I should
About the disease
Q: What is epidermolysis
It is a congenital skin-blistering
Babies who inherit the condition
are born with skin that
is unable to withstand the everyday
stress of rubs and
knocks, said Dr Ng Yi Zhen, research
fellow at the Epithelial
Biology Lab of the Institute of
Medical Biology (IMB) at the
Agency for Science, Technology and
The disease affects more
than 30 families in Singapore
and an estimated half a million
There is currently no effective
therapy and cure for EB.
There are three main types
of EB, with the most common
form being EB simplex, which
Dr Ng and other researchers at
IMB are studying.
Dr Ng said EB simplex is
mainly caused by inherited
mutations in genes of keratin
5 and keratin 14. Keratin 5 and
14 are filament proteins,
which make microscopic supportive
within skin cells.
These keratins are responsible
for the ability of our skin to
withstand mechanical stress,
such as rubbing and pinching.
Mutations in these keratins result
in fragile skin, said Dr Ng.
Dr Mark Koh, head and consultant
of Dermatology Service
at KK Women’s and Children’s Hospital , said EB
simplex is a less severe form of
EB and patients can usually
lead near-normal lives.
The severe forms of EB,
such as junctional EB, can lead
to death in infancy or early
childhood. “Most patients
who die from EB suffer from
severe forms of EB, and the
cause of death is usually severe
infection,” said Dr Koh.