title: Pitted enamel hypoplasia in tuberous sclerosis.
abstract: Thirty patients with tuberous sclerosis (from 29 different families) were examined for evidence of macroscopically visible pitted enamel hypoplasia. Of 23 patients with permanent teeth, 11 (48%) showed multiple enamel pits (mean 4.6 pits, range 3-9), but none were seen in six patients with deciduous teeth. Five of 563 controls (0.88%) had similar pitted enamel hypoplasia. Simple dental examination may be a useful adjunct in the assessment of patients with permanent teeth when a diagnosis of tuberous sclerosis is being considered, but is less likely to be helpful in the pre-school child.
authors.affiliation: Institute of Medical Genetics, University Hospital for Wales, Cardiff, UK.
authors.forename: J R
authors.initials: JR
authors.lastname: Sampson
authors.forename: D
authors.initials: D
authors.lastname: Attwood
authors.forename: A S
authors.initials: AS
authors.lastname: al Mughery
authors.forename: J S
authors.initials: JS
authors.lastname: Reid
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003744:Dental Enamel Hypoplasia / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D014402:Tuberous Sclerosis / Q000175:diagnosis*