Tuberous sclerosis in a patient from Nigeria

Area of Science:

• Genetics
• Pediatrics
• Dermatology

Background:

• Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder.
• It is caused by mutations in TSC1 or TSC2 genes, leading to benign tumor formation.
• Early diagnosis and intervention are crucial due to progressive disease manifestations.

Observation:

• TSC is underreported in sub-Saharan Africa and among individuals of Black African ancestry.
• A case study of a 4-year-old Nigerian boy with TSC is presented.
• The patient exhibited characteristic skin lesions and cardiac anomalies.

Findings:

• The Nigerian boy's presentation highlights TSC in a previously underrepresented demographic.
• Common skin manifestations of TSC were observed in the patient.
• Cardiac anomalies were also noted as a significant clinical feature.

Implications:

• This case underscores the importance of recognizing TSC in diverse populations.
• In resource-limited settings lacking advanced genetic testing, prominent skin findings can serve as vital early diagnostic markers for TSC.
• Prompt identification through clinical markers can facilitate earlier management and improve patient outcomes.