Black spots on lips and fingertips could be signs of rare disease

A woman who has had black spots on her lips and fingertips and frequent belly aches since she was 2 years old never knew these are symptoms of a rare disease until she was diagnosed at the age of 28.

The disease is called Peutz-Jeghers syndrome, characterized by noncancerous polyps in the gastrointestinal tract that cause recurrent bowel obstructions, chronic bleeding and abdominal pain. People with the disease have a much higher risk of developing certain types of cancer.

There is currently no cure for the disease, only treatments for symptoms and cancer screenings for early detection and intervention.

The woman began to develop symptoms in her vagina earlier this year. She visited the Gynecology and Obstetrics Hospital of Fudan University, where doctors detected rare but benign cervical problems that nevertheless required intervention to prevent from becoming cancerous. She underwent surgery and has been discharged.

Experts say people with rare diseases such as Peutz-Jeghers syndrome or a family history should seek genetic counseling before getting pregnant and undergo preimplantation genetic-testing technology, or PGT, through which doctors conduct genetic testing on embryos and transplant healthy ones to prevent passing genetic diseases to children.