Boils, blisters on baby's skin lead to diagnosis of genetic disorder

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.

- Judith Tan

Seeking answers, her parents took her to a pediatrician, 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," she told The Sunday Times.

"As her parents, we felt overwhelmed with questions, fears and the weight of the unknown."

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

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.