Trends in the Prevalence of Tuberous Sclerosis Complex Manifestations: An Epidemiological Study of 166 Japanese Patients

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with multi-system involvement and variable manifestations. There has been significant progress in TSC research and the development of technologies used to diagnose this disorder. As a result, individuals with mild TSC are now being diagnosed, including many older adults who have not developed seizures or cognitive abnormalities. We conducted a statistical analysis of the frequency of TSC manifestations in a population of Japanese adults and children, comparing our findings with historical data. The chi-square test was used to examine the frequency of each manifestation by age. A total of 166 outpatients at the Department of Dermatology of Osaka University Hospital during the period from January 2001 to March 2011 were included in the study. Compared to previous reports, the frequency of neurologic manifestations (excepting autism) was lower in this cohort, and the frequency of skin manifestations (excepting hypomelanotic macules) was higher in this cohort. The frequencies of pulmonary lymphangioleiomyomatosis and renal manifestations were not significantly different from those previously reported. Regarding the association of each manifestation with age, the frequency of neurologic manifestations (excepting subependymal giant cell astrocytoma) was significantly higher in younger patients than in older patients. The frequency of skin manifestations and renal angiomyolipoma were significantly higher in older patients than in younger patients. Because of their high frequency and visibility, skin manifestations are useful in the diagnosis of TSC. Moreover, uterine perivascular epithelioid cell tumor was also characterized as a new findings associated with TSC.

Analysis of twenty pediatric cases of tuberous sclerosis complex: Are we doing enough?

“…Similarly high incidence of 80%-92.6% was observed in two other Indian studies [1,18] and a Japanese study, [19] whereas lower incidences of 55.5% and 65% were noted in other studies both in India and abroad. [2,20] Facial angiofibromas on centrofacial area are seen in 80% of patients.…”

“…[21] The incidence of angiofibromas was noted to be high in various studies, ranging from 88% to 100%. [1,[18][19][20] We observed angiofibromas in 90% of patients.…”

“…[22] The present study shows an incidence of 30% of fibromatous plaques and fibromas over scalp, whereas other studies reported this finding in 2.5-55.5% of patients. [1,2,[18][19][20] The characteristic skin colored leathery plaques with prominent follicular openings resembling orange peel, usually located in the lumbosacral area are termed shagreen patch. Sixty-five percent of patients had shagreen patch in our study, which was almost similar to the incidence in two other Indian studies (66.7% and 77.7%, respectively).…”

“…[1,20] A range of 12.3-83% has been reported in various studies. [1,2,[18][19][20] Periungual fibromas termed as Koenen tumors start appearing in late childhood as firm, smooth, flesh-colored tumors arising from the nail folds. We found periungual fibromas in 20% of cases, whereas previous reports showed a range of 6.2-66.6%.…”

Case Report Mutation screening of TSC1 and TSC2 genes in Chinese Han children with tuberous sclerosis complex

“…Infantile spasms, intractable epilepsy, cognitive disabilities, and autism are the main clinical features in the central nervous system of patients suffering from TSC (Wataya-Kaneda et al, 2013;Michelozzi et al, 2013;Hsieh et al, 2013).…”