The following report from the MHC-database is based on the latest version of the Mun-H-Center Observation Chart that has been in use since 2008. Please note, that this report exclude children younger than 3 years.
Reports based on the original forms (1996-2008) are presented at the bottom of this page - below the description of the diagnosis
Estimated occurrence
1: 10 000 live births are affected by severe tubular sclerosis. A large number of additional individuals remain undiagnosed and unaware that they have the syndrome, as its severity differs so greatly.
Etiology
Tubular sclerosis is caused by a genetic mutation, which, in turn, disrupts normal cellular development in the bodily organs. Although the genetic mutation is congenital, it often occurs as a spontaneous mutation. The pattern of heredity is an autosomal dominant genetic trait. At least two different genes, one on chromosome 9 and one on chromosome 16, have been found to give rise to this mutation.
General symptoms
The anomalies may be found in one or more organs, and may be minor or major. Organs that may be affected include the brain, kidneys, heart, eyes, lungs, nails and skin. The most common symptoms are skin abnormalities, and the most discernible functional disabilities include epilepsy, mental retardation and autism or autistic traits. Hyperactivity is a serious problem in nearly half of all individuals with severe tubular sclerosis. Impulse control disabilities and temper tantrums are also very frequent symptoms.
Orofacial/odontological symptoms
Enamel aberrations in the form of pitting are frequent. Gum fibromas may occur, particularly in the region of the front teeth. Speech- and language development is often delayed, and some of these children never acquire speech. Eating difficulties and drooling are common.
Orofacial/odontological treatment
- Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
- When enamel pitting occurs, this seldom requires treatment.
- Orofacial therapy and oral motor skills training and stimulation in cases of difficulties with eating, speech or drooling may be relevant.
- Speech, language and communication training are often required.
- Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
Sources
The rare disease database of the Swedish National Board of Health and Welfare.
The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
The Newsletter from the Ågrenska center.
