Neurofibromatosis 1

Recklinghausen´s disease.

1:3,000 inhabitants

The 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.

Café 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 the auditory nerves, the central nervous system, and skeletal development. Endocrine tumors 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.

Neurofibromas 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 regualr 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 usupension of breathing while asleep).

• Extra preventive dental care is often required.
• Training in oral motor skills in cases of eating disorders, speech difficulties and drooling may be necessary.
• Speech, language, and communication therapy are often justified.
• Snoring problems should be followed up by a physician.
• an orthodontist should be consulted between the ages of 7 and 9 in order to identify dental aberrations or malocclusions and plan any necessary othodontic treatment.

The MHC database - The Mun-H-Center database of orofacial manifestations in rare diseases.
Information from 'Ågrenska'.
Information from 'Smågruppscentrum'