What is Recklinghausen's disease?
This genetic condition has long been confused with the Proteus Syndrome (the syndrome of The Elephant Man). As many as 15,000 individuals are affected in France.
What are the clinical signs?
The onset of signs and symptoms is progressive and can vary greatly from one family member to another. NF-1 causes café au lait spots (more than five), non-cancerous lumps (neurofibromas: tumors growing on nerves or connective tissues) that very often have a crude appearance due to their size, number and location. NF-1 also results in intellectual disabilities (generally light), impaired brain and vascular functions, as well as orthopedic disorders. It may be associated with an increased likelihood of malignancies.
Some conditions may be very debilitating causing scoliosis and kyphoscoliosis, spontaneous fractures of the long bones leading to amputation, and the neurofibromas may cause some serious sensory and motor disabilities.
What is the cause?
It is a genetic disorder with an increased risk of spontaneous mutations. The rate of this disease being normally inherited, when neither of the parents are affected—is of one out of 3,000 births and two if either of the parents is affected. The recent identification of the NF-1 gene presents undoubtedly promising new breakthroughs for therapy.
For more information
Association NF France, 1 rue Dupuytren, Paris 75006
Suggested readings: (for paramedics, in French only)
Rubenstein A. E., Korf B. R., Neurofibromatosis ; a handbook for patients, families, and health-care professionals. Thième, 1990.
Zeller J., La surveillance d'une neurofibromatose. La revue du praticien, 1994, 8, 256.