tuberous sclerosis type 1

(redirected from Bourneville-Crouzon disease)

tuberous sclerosis type 1

An autosomal dominant multi-system disorder (OMIM:191100) characterised by hamartomas and developmental defects, which primarily affects the brain, kidneys, heart and skin.

Clinical findings
Range from benign hypopigmented skin macules, to profound mental retardation with intractable seizures and premature death due to disease-associated causes.
 
Molecular pathology
Defects of TSC1, which encodes a putative tumour suppressor, cause tuberous sclerosis type 1.