Tuberous sclerosis in a patient from Nigeria.

Autor: Ekure EN; Department of Paediatrics College of Medicine, University of Lagos/ Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria., Addissie YA; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Sokunbi OJ; Department of Paediatrics College of Medicine, University of Lagos/ Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria., Kruszka P; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland., Adeyemo AA; Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Aug; Vol. 179 (8), pp. 1423-1425. Date of Electronic Publication: 2019 May 29.
DOI: 10.1002/ajmg.a.61194
Abstrakt: 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.
(© 2019 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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