The Skin We’re In: How Race might Influence Disease Recognition

By Tanjala T. Gipson

I have the honor and privilege of providing medical care for children and adults with Tuberous Sclerosis Complex (TSC) since 2009. TSC is a rare genetic condition, known for skin brain and skin lesions; therefore, it is classified as a neurocutaneous disorder. As I began caring for patients with TSC, I noticed that not many of my patients were Black. I looked to the literature and asked people in the community, but no one seemed to have answer for this possible disparity. Therefore, when Black patients did come to clinic, I had lots of questions for them. One of the questions I routinely asked was, ‘What was the first noticed sign of TSC? Who noticed it? How long did it take to get a diagnosis?’

The answers I got were surprising. In one family, their child was of mixed race and had an abundance of one of the classic skin signs of TSC, hypopigmented macules (formerly known as Ash leaf spots). When the parents asked their pediatrician about these macules, the pediatrician (with a straight face, apparently) said, ‘Well, since one of you is White, and the other is Black, your child is simply spotted.’ Wow. Leopards are spotted. There is no such thing as a spotted child. As time went on, many families reported that, facial angiofibromas, another of the classic skin signs of TSC, were diagnosed as acne. The final straw was when a young nurse came to our clinic with every skin and nail manifestation of TSC, hypopigmented macules, facial angiofibromas a prominent cephalic plaque, shagreen patches and lesions on her fingernails and toenails (ungual fibromas). Just like the others, she had been evaluated by a physician, and these skin lesions were explained away as acne and birth marks. However, unlike the others, the delay in recognition of these skin manifestations, led to devastating consequences. Since she did not have a diagnosis of TSC, her physician failed to recognize that the TSC- specific kidney lesions she developed were amenable to medication management. She was treated with a bilateral nephrectomy instead, assigned to dialysis and wait listed for a kidney transplant. Given the frequency of the dialysis treatments and the fatigue she felt afterwards, she was unable to continue working as a nurse and was relegated to receiving SSI disability payments as her only source of income. By the time of her visit with our center, she had also developed lung lesions associated with TSC and was on the lung transplant waiting list. When her name finally came up for a simultaneous lung and kidney transplant, she experienced complications on the table. The transplants were canceled, and she was removed from both lists since she was classified as a poor candidate. As I spent time with her, I kept thinking what could have been different with early recognition. We published her case in hopes of informing the medical community so that this type of tragedy would not be repeated.

The unique aspect of TSC is that the underlying mechanism of disease is well-described, and there are specific medications that can treat most aspects of the disease especially when recognized and treated early. Therefore, education of the medical community is critical. Given our clinical experiences of under recognition of the skin lesions of TSC in Black patients, we decided to examine the data in the rest of our patients in our clinical cohort to see if there was a pattern. We also examined data from the TSC Alliance’s Natural History Database. Finally, we provide an atlas of the skin findings of TSC using photographs of patients with TSC and different skin tones. It is our hope that no one with TSC is misdiagnosed just because of the skin they’re in.

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Article Details
Racial differences in the dermatological manifestations of tuberous sclerosis complex and the potential effects on diagnosis and care
Ashley J. Pounders, Gabrielle V. Rushing, Sonal Mahida, Bareng Aletta Sanny Nonyane, Emily A. Thomas, Rabiah Sundus Tameez, and Tanjala T. Gipson
First Published December 10, 2022
DOI: 10.1177/26330040221140125
Therapeutic Advances in Rare Disease

About the Author

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Dr. Gipson is an internationally recognized expert in Tuberous Sclerosis Associated Neurodevelopmental Disorders (TAND). Her training as a pediatrician, child neurologist and neurodevelopmental disabilities specialist lends uncommon expertise to the field and led her to create the first TSC Center of Excellence at Kennedy Krieger Institute. After serving at Kennedy Krieger Institute, she decided to focus on underserved populations of affected individuals in Memphis, TN and the surrounding areas.

In her current position, she is working collaboratively with Le Bonheur Children’s Hospital, the Boling Center for Developmental Disabilities, and the University of Tennessee Health Sciences Center to further her clinical and research efforts for this unique population. Her mission is to provide the latest in innovative clinical care for this population; conduct research that will lead to improved treatments and work towards the goal of finding a cure. Although Dr. Gipson is in Memphis, TN, she remains dedicated to the mission of serving families affected by TSC worldwide.