Genetic heterogeneity in tuberous sclerosis: Phenotypic correlations

Abstract

There is increasing evidence for genetic heterogeneity in tuberous sclerosis (TSC) on the basis of linkage analysis in affected kindreds. We have performed a detailed assessment of an affected South African family in which there is no evidence of linkage to chromosome 9 markers. The affected persons have atypical clinical features, namely prominent nuchal skin tags, a confetti pattern of hypopigmentation of the skin of the lower legs, and absence of ungual fibromata. Further investigation of these unusual phenotypic features is warranted in order to determine whether these lesions are con- sistently present in families in whom the gene for TSC is not on 9q34. We conclude that confetti depigmentation and nuchal skin tags may be clinical pointers to an alternative locus for TSC.