Estimated occurrence30:100,000 inhabitants.
CauseThe locus of the gene that causes this syndrome is the long arm of chromosome 17. Autosomal dominant heredity. 50-60% of the occurrences are spontaneous mutations.
General symptomsCafé au lait spots and neurofibromas of the skin are characteristic. The latter are benign tumors that develop in the supportive tissue around the nerves. There may be up to several hundred of them. One-third of affected individuals develop plexiform neurofibromas, which are not nearly as restricted as neurofibromas of the skin. This disease, or more correctly disorder, may also impair the ocular and auditory nerves, the central nervous system, and skeletal development. Endocrine tumours occur. Children with this diagnosis should have annual physical examinations. Some developmental delay, learning difficulties and concentration problems may occur, as well as epilepsy. Scoliosis is occasionally found.
Orofacial/odontological symptomsNeurofibromas may occur in the oral mucous membranes, but these are normally not treated unless they grow or become uncomfortable. Neurofibromas may also occur in the jawbone, where they may be found with the aid of general radiographs. If they are found, they should be checked at regular intervals. There may be enlarged papillae on the tongue. Early tooth eruption has been reported, as well as abnormal tooth positions. Eating and speech difficulties and drooling are found, as well as occasional sleep apnea (frequent suspension of breathing while asleep).
Advice on follow-up and treatment
- Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
- Regular check-ups of dental and jaw development. Orthodontist should be consulted when needed.
- Oral motor training and stimulation may be relevant in cases of eating difficulties, speech impairment and drooling.
- Speech, language and communication training are often justified.
- Snoring problems should be followed up by a physician.
Updated: 2019-11-12 15:04