Peutz-Jegher Syndrome

Sometimes, when you see something. you just could not forget it . . .

Way back during the earlier years of my career, there was a little girl admitted to my ward with intestinal obstruction. She was found to have multiple polyps in the small and large intestines. She was operated and got well. While in the hospital (biasalah - university hospital - batches of medical students came to see her because she had distinctive pigmentations on her lips - malangnya her father who also had the same pigmentations listened to the medical students' discussion. Dia rasa bersalah kerana menurunkan baka penyakit itu kepada anaknya. Apa yang medical students tu cakap tak tahulah... hinggakan satu pagi dia dijumpai mati setelah terjun bangunan hospital lapan tingkat. Commit suicide !

So, when this man came to me with abdominal pain, I knew the diagnosis straight away... because of the distinctive lip pigmentations.

The dots or circum-oral pigmentations on the lip, or freckling of the mouth is a feature of a hereditary condition call Peutz-Jegher Syndrome.

I knew straight away that the abdominal pain was most probably due to intestinal polyps. X-ray showed feature of small intestinal obstruction. I took him to the operation room, and this was what I found !

Intestinal polyps causing intussusception (invagination of the intestine onto itself)

What is Peutz-Jegher Syndrome?

Peutz-Jeghers syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamartomatous polyps in the digestive tract, as well as breast, colorectal, and other types of cancer. A hamartoma is a growth of normal-appearing tissue that builds up into a non-cancerous tumor. However, the growth can transform into cancer over time. Cancer begins when normal cells begin to change and grow uncontrollably, forming a mass called a tumor. A tumor can be benign (non-cancerous) or malignant (cancerous, meaning it can spread to other parts of the body).

The lifetime risk of cancer in people with PJS is around 93%. People with PJS also tend to develop dark blue or dark brown freckling, especially around the mouth and on the lips, fingers, or toes. Freckles generally appear in childhood and may fade with age.

The proposed criteria for a diagnosis of PJS are:

Diagnosis of one or more hamartomatous polyps in the digestive tract, and at least two of the following:

1. Polyps in the small intestine
2. Characteristic freckling of the mouth, lips, fingers, or toes

3. At least one relative diagnosed with PJS

Apa maksudnya semua ini bagi pesakit tersebut? Ini bermaksud kemungkinan beliau untuk mendapat kanser (terutamanya kanser usus adalah tinggi) dan beliau mestilah menjalani satu skima pemeriksaan perubatan secara berkala untuk mengesan kanser sebelum ianya parah.

Bagi pesakit ini, beliau perlu menjalani pemeriksaan kolonoskopi dan ultrasound setiap 2 tahun.

Tak semua yang ganjil di kulit kita itu tanda lahir, ada antaranya tanda-tanda kanser.

Bertanyalah pada yang tahu. Setiap yang Allah jadikan itu ada sebabnya !