A mother covered in thousands of bubble-like benign tumors says she has learned to love her appearance and is “proud” to wear a swimsuit on the beach. She said that when she met her husband-to-be, he “fell in love” with her bumps.
Sandra De Santos has had benign lumps growing on her face and body since she was a teenager.
However she says when she met her husband-to-be, Jose, he ‘fell in love’ with her lumps.
The 53-year-old, from Rio de Janeiro, Brazil, has neurofibromatosis type-1 (NF1).
Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people.
Beginning in early childhood, almost all people with neurofibromatosis type 1 have multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. These spots increase in size and number as the individual grows older. Freckles in the underarms and groin typically develop later in childhood.
Most adults with neurofibromatosis type 1 develop neurofibromas, which are noncancerous (benign) tumors that are usually located on or just under the skin. These tumors may also occur in nerves near the spinal cord or along nerves elsewhere in the body. Some people with neurofibromatosis type 1 develop cancerous tumors that grow along nerves. These tumors, which usually develop in adolescence or adulthood, are called malignant peripheral nerve sheath tumors. People with neurofibromatosis type 1 also have an increased risk of developing other cancers, including brain tumors and cancer of blood-forming tissue (leukemia).
During childhood, benign growths called Lisch nodules often appear in the colored part of the eye (the iris). Lisch nodules do not interfere with vision. Some affected individuals also develop tumors that grow along the nerve leading from the eye to the brain (the optic nerve). These tumors, which are called optic gliomas, may lead to reduced vision or total vision loss. In some cases, optic gliomas have no effect on vision.
Additional signs and symptoms of neurofibromatosis type 1 include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with neurofibromatosis type 1 have normal intelligence, learning disabilities and attention deficit hyperactivity disorder (ADHD) occur frequently in affected individuals.
The tumours cover Sandra’s body from top to toe, and has been passed on to three of her four children. Sadly, it killed her son when he was aged just six.
She said: ‘There are moments when I feel sad to see myself in the mirror, or to notice people staring at me on the street, but my family has always supported me.’
The British Journal Editors and Wire Services