Tuberous sclerosis in a patient from Nigeria
Date
2019-08
Authors
Ekure, E.N.
Addissie, Y.A.
Sokunbi, O.J.
Kruszka, P.
Muenke, M.
Adeyemo, A.A.
Journal Title
Journal ISSN
Volume Title
Publisher
Wiley
Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by mostly benign tumors of the brain, skin, heart, kidney, and eye. Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC. Because disease manifestations develop over time, early diagnosis and intervention are imperative for patients. TSC is not well described in patients from sub-Saharan Africa or of black African ancestry. Here, we report on a 4-year-old Nigerian boy with skin lesions and cardiac anomalies associated with TSC. Furthermore, we note that in areas with limited resources for genetic diagnoses, the common skin manifestations found in TSC may be especially useful clinical markers.
Description
Keywords
Nigeria , Diverse populations , Tuberous Sclerosis
Citation
Ekure EN, Addissie YA, Sokunbi OJ, Kruszka P, Muenke M, Adeyemo AA. Tuberous sclerosis in a patient from Nigeria. Am J Med Genet A. 2019 Aug;179(8):1423-1425.