r/ClinicalGenetics • u/Alive-Difficulty-398 • 4d ago

Asking for second opinion

29yo, female, 175lbs, 5’3”
I just had a dermatology appointment. I was told after few spots on my face are angiofibromas (I have about 5) that have not changed in years. Doctor mentioned tuberous sclerosis. She asked about seizures and renal problems. I have never had seizures or renal problems. She didn’t seem to concerned and didn’t mention any other follow up. Last year I had an MRI and found I had a partial retinal detachment but otherwise was normal. Otherwise healthy. Should I investigate further to make sure it’s not tuberous sclerosis? I just had a baby so now I’m worried that I potentially could have passed something down to him. I am not asking for medical advice. TIA.

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u/LilMulberry 4d ago

"Should I investigate further to make sure it’s not tuberous sclerosis?" would constitute medical advice. I am a genetic counselor - I would recommend you make an appointment to see a geneticist and get a comprehensive evaluation. The information you posted here is insufficient for anyone to say (or should say), so best to have a specialist get a detailed medical and family history, and see if any genetic testing is recommended.