Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance

Background Tuberous sclerosis complex (TSC) is an autosomal dominant disord er characterized by widespread cutaneous and visceral hamartomas. Methods The prevalence of cutaneous lesions in 106 children with TSC (47 bo ys and 59 girls) aged 1 month-18 years was evaluated from 1984 to 1995. Ass essing the diagnostic usefulness of each National Tuberous Sclerosis Associ ation skin criterion was an aim of this study. Results Hypopigmented macules were the most frequent finding, seen in 103 o f 106 children (97.2%). In 66 children they were evident at birth, and in 2 0 others their presentation was delayed until the first months of age. Faci al angiofibromas were seen next most often (79 of 103, 74.5%), followed by a shagreen patch in 51 of 103 (48.1%), "cafe-au-lait" macules in 30 of 103 (28.3%), molluscum fibrosum pendulum (24 of 103, 22.6%), a forehead fibrous plaque (20 of 103, 18.9%), periungual fibromas (16 of 103, 15.1%) and "con fetti-like" macules (3 of 103, 2.8%). The hypomelanotic macules were seen w ithin the first 2 years of life in 95 children, as were cafe-au-lait spots in 24, facial angiofibromas in eight, shagreen patches in six, and forehead fibrous plaques in six, whereas molluscum pendulum and periungual fibromas were not evident. Seizures were seen in 102 of 106 children (98%), with 80 (75%) occurring during the first year of life. Conclusions Hypomelanotic macules were the overwhelmingly most common early finding in TSC. Infants with seizures or other possible stigmata of TSC sh ould be carefully evaluated for these hypomelanotic macules, as well as for other associated findings.