Tuberous sclerosis

Tuberous sclerosis, or tuberous sclerosis complex (TSC), is a complex genetic disorder that causes non-cancerous tumors to form in many different organs, especially the brain, eyes, heart, kidneys, skin, and lungs. About one-third of known cases are inherited, and the rest are the result of genetic mutation during conception or very early embryo development.

TSC affects about 1 in 6,000 newborns, and nearly one million people worldwide are estimated to have this disorder, including some 50,000 in the United States. It affects males and females equally and is found in all races and ethnic groups. The condition can show up in many ways, but the biggest impact is often in the brain, causing seizures, developmental delays, intellectual disability, and autism, all of which can reduce quality of life.

There is no cure, but early diagnosis and treatment can help overcome developmental delays. Medications known as mTOR inhibitors can help treat and manage tumors in the brain, kidneys, and lungs related to TSC, and certain surgeries are available. UAB Medicine’s Epilepsy Surgery Program uses advanced technology to evaluate patients with TSC and drug-resistant epilepsy to see if epilepsy surgery may be right for them. UAB also offers a range of medications and procedures to treat patients with TSC who have renal lesions, and our pulmonology program provides complete care for patients with TSC who have a rare lung disease called lymphangioleiomyomatosis, or LAM.

TSC clinic

The UAB Tuberous Sclerosis Center of Excellence, established in 2007, was the first of its kind in the Southeast, and it serves patients with an established or suspected TSC diagnosis. This TSC clinic is led by Director Martina Bebin, M.D., MPA, and staffed by physician experts in genetics, neurology, dermatology, and genetic counseling, and it also has access to experts in endocrinology, pulmonology, nephrology, neurosurgery, ophthalmology, and other specialties. It provides patients and their families with access to medical providers who are familiar with TSC care guidelines and common medical and emotional concerns.

Our providers strive to offer the most current information on TSC treatment and research, and as a major research center, UAB participates in many clinical research trials that may be open to our patients with TSC. This means that UAB patients may have access to cutting-edge therapies not available at other medical centers.

To make an appointment with the TSC clinic or ask questions, please call 205-975-2890 or email UABTSCClinic@uabmc.edu.

Care Providers

Hussein Abdul-Latif, MD Pediatric Endocrinology Elizabeth Alva, MSPH, MD Pediatric Hematology, Pediatric Medical Oncology Joseph Barney, MD Pulmonology, Critical Care Medicine Martina Bebin, MPA, MD Neurology, Pediatric Neurology Jeffrey Blount, MD Pediatric Neurosurgery Dan Feig, PhD, MD Pediatric Nephrology Ravi Hiremagalore, MD Pediatric Dermatology Kim Hoover, MD Obstetrics and Gynecology David Joseph, MD Pediatric Urology Roy Martin, PhD Neuropsychology Ismail Mohamed, MD Clinical Neurophysiology, Epilepsy Neurology Burt Nabors, III, MD Neuro-Oncology, Neurology Rachel Oser, MD Interventional Radiology Ada Peralta-Carcelen, MPH, MD Developmental-Behavioral Pediatrics, Pediatrics Kristen Riley, MD Neurosurgical Oncology, Brain and Tumor Neurosurgery, Neurosurgery Robb Romp, MD Pediatrics, Pediatric Cardiology Curt Rozzelle, MD Pediatric Neurosurgery Takamitsu Saigusa, MD Nephrology Ashley Thomas, MD Neurology, Epilepsy Neurology, Clinical Neurophysiology Robert Troxler, MD Pediatric Pulmonology, Sleep Medicine