Leora Lim, three, has incontinentia pigmenti, a rare X-linked dominant genetic condition. ST PHOTO: AZMI ATHNI

SINGAPORE – Leora Lim was born in 2021, bringing joy and hope to her parents.

But three days after her birth, rashes appeared on her delicate skin, which quickly turned into boils and blisters.

Seeking answers, her parents took her to a paediatrician, who then referred them to a dermatologist.

“After several visits and tests, we received the diagnosis: incontinentia pigmenti (IP). We were told it’s a rare genetic condition,” said Leora’s mother, Ms Hazel Ng.

“When we heard those words, it felt like our world had shifted.”

The 38-year-old physical education teacher learnt that IP could be hereditary, so she underwent DNA testing together with her daughter.

“While I tested negative, Leora’s results confirmed (what is known as) a deletion on her X chromosome. It was heartbreaking. As her parents, we felt overwhelmed with questions, fears and the weight of the unknown,” she told The Straits Times.

IP is a rare X chromosome-linked genetic disorder that affects the skin, hair, teeth, nails, eyes, brain and central nervous system.



Three days after Leora Lim was born, rashes appeared on her delicate skin, which quickly turned into boils and blisters. PHOTO: COURTESY OF MS HAZEL NG

Associated problems of IP include delayed development, intellectual disability, seizures and other neurological problems.

Associate Professor Mark Koh, who heads the department of dermatology at KK Women’s and Children’s Hospital (KKH), said: “About 10 per cent may have neurological issues like fits, seizures. They may have developmental delays...

“I would say most of our patients, about 90 per cent, do pretty well neurologically.”

The gene can be passed from mother to daughter, but that was not the case with Leora.

Instead, her condition was the result of mutations in the IKBKG gene, also called Nemo, that is located in the X chromosome. 

“Every time a cell splits, the DNA needs to be replicated; otherwise, there is not enough DNA to split into two cells,” Dr Koh told ST.

“So when a cell splits, the two need to ‘re-spell’ everything, that is, copy everything out again. It is not photocopying but more like manually typing, so errors occur.” 

He added that most male foetuses with the disease do not survive to childbirth.

Globally, one in 50,000 newborns suffers from the condition, and KKH sees about two or three new cases every year.



Associate Professor Mark Koh (standing), head and senior consultant for the department of dermatology at KK Women’s and Children’s Hospital, is the doctor managing Leora. ST PHOTO: AZMI ATHNI

All such cases in Singapore are referred to KKH.

“It is almost exclusively in girls. When they are born, the condition presents with the streaks of blisters. They usually occur in the first few weeks of life before turning into wart-like lesions, making the skin a good diagnostic criterion,” Dr Koh said.

These lesions, which can appear on 20 per cent to 50 per cent of the body, develop into grey or brown patches which fade with age, becoming lighter than the skin colour, Dr Koh added.

There is no specific treatment or cure for IP, and Dr Koh said the main thing is to prevent secondary bacterial infection of skin lesions and to monitor closely the development of related problems in areas such as the eyes and teeth.

The first few months of Leora’s life were filled with challenges.

Her mother said her skin demanded constant care – cleaning, medicating and soothing of the blisters.

“Each one left behind scars, which we now call her tiny battle marks,” Ms Ng said, adding that it was and still is a delicate balance between letting Leora enjoy her childhood and safeguarding her health.

“We avoided swimming for her entire first year and introduced it only cautiously after that, starting with 10-minute sessions and gradually increasing the time,” she said.

“Even now, we have to carefully manage her time in the pool; anything beyond 45 minutes triggers dryness and eczema.”

Other than the skin, the eye suffers the most common side effect.

Dr Koh said: “(Girls with IP) can get new blood vessels forming at the back of the eye. These vessels are very fragile, so they break easily and bleed into the retina. The girls can go blind.

“About 40 per cent to 50 per cent of our patients have this eye issue. So we always refer them to the eye doctors, the ophthalmologists, and they undergo (laser treatment) very early to treat these blood vessels.”

At just two months old, Leora underwent her first angiography, an imaging test to view the blood vessels in her retina, and it revealed a leaking blood vessel in her left eye. It needed immediate laser treatment to prevent retinal detachment.



Leora showing her teeth which are peg-shaped due to her incontinentia pigmenti. ST PHOTO: AZMI ATHNI

By the time she was 16 months old, another angiography revealed a constricted blood vessel in her right eye, leading to a second laser procedure.

Said Ms Ng: “For two years, Leora had eye checks every three months and they were some of the hardest moments for us, the parents.

“To keep her still, she had to be swaddled and restrained. She was wailing while I held her and the nurse secured her head.

“When she turned three, her surgeon gave us the news we had been praying for – her eyes were developing well, and she would not be needing further laser treatments.”

Then there was the issue of her teeth.

Like all IP patients, they were peg-shaped, and her dental visits began at 18 months.

“Although her teeth grew more slowly than those of her peers, she was able to eat normally. Some of her teeth are peg-shaped, but for now, it is more of an aesthetic concern. Her smile, however, is perfect to us,” Ms Ng said, adding that it is Leora’s smile that continues to give her parents strength.

Dr Koh said after her adult teeth develop, she will be sent for reconstructive surgery.

Through all of this, Leora, now three, showed true grit, said Ms Ng.



Ms Hazel Ng (left), 38, a physical education teacher, worries how she is going to explain the condition to daughter Leora when she is older. ST PHOTO: AZMI ATHNI