'I was absolutely gobsmacked': A doctor’s rare case from his first day on a new job

Hyperkeratosis on the palms of a 44-year-old man, a characteristic of tylosis. Photo: Science Photo Library.

The first patient Professor Andrew Miller saw as a radiation oncology consultant in New Zealand more than 20 years ago was his first and only case of tylosis.

She had squamous cell carcinoma of the upper oesophagus at just 36 years old.

“It is not a characteristic age group for oesophageal cancer, nor is the upper oesophagus the normal part,” Professor Miller said.

When she saw Professor Miller for follow-up after radiotherapy, he asked to see her hands.

“Because I was fresh out of my exams, I remembered that there were seven or eight causes of oesophagus cancer that were a bit unusual,” he told AusDoc.

“The first happened to be tylosis, which my oncology textbook said was present in two families in Liverpool in the UK.”

“So I said, ‘This is in relation to your oesophageal cancer. Can I have a look at your hands, please?’

“And she said, ‘Oh no, you can’t look at my hands; I’ve got the tylosis.’

“I was absolutely gobsmacked.”

Tylosis, or Howel–Evans syndrome, is a genetic disorder characterised by hyperkeratosis of the palms and soles.

“Instead of the hand looking pinkish, it looks yellowish,” Professor Miller said.

“It is like having a callous, but it is very diffused and widespread across the whole of the palm.”

A study of the two Liverpudlian families found that their members had a 95% risk of oesophageal cancer by the age of 65.

Professor Miller’s patient had no relatives in Liverpool, yet two of her four children had hallmarks of the rare condition.

“I wrote to the guys in Liverpool who had originally described it and asked what they had done about screening relatives who had tylosis,” he said.

“When I got the letter back from them, they said they did not do it and they did not really know what they should be doing.

“This was not terribly helpful for a doctor in faraway New Zealand.”

Two weeks later, the patient was admitted to the oncology ward with an obstructed oesophagus and aspiration from continuing to eat with a feeding tube.

“I looked at the chest X-ray and thought to myself, ‘This lady will be dead by the morning.’”

Professor Miller met her children, who knew nothing about her cancer or tylosis.

“I explained the X-ray and why the oesophagus cancer was there in someone so young, and I saw the kids with tylosis and explained to them that they had the same risk,” he said.

“I said to the kids as well, ‘You need to sit down with her, to hold her hand, and you need to talk to her and tell her what you want to tell her.'”

“Then I went home, I got in the front door and my wife said, ‘Where the hell have you been?’”

“I went through the story and said to her: ‘All I could think of was, if that was our kids, who would tell them what they need to do right now so that they have as few problems in the future as possible?’

Now working at the Illawarra Cancer Care Centre and Wollongong Hospital, he advised doctors who ever saw tylosis to contact a major dermatological centre and find a doctor who specialised in these cases.

“To me, it would be reasonable to undertake, for instance, a yearly oesophagoscopy to check out what is happening.

“If you start to see abnormalities, you would biopsy those and talk straight away about doing a prophylactic oesophagectomy.”