Some inherited syndromes have both skin, cardiac manifestations

Patients should be screened for conditions affecting the skin and heart

Some rare dermatologic conditions may have a link to heart health, meaning dermatologists need to take appropriate action when seeing patients who present with a condition that may have a cardiac component. That’s according to a news article in the September 2026 edition of The Chronicle of Skin & Allergy.

During a presentation at the annual meeting of the American Academy of Dermatology in Denver, Dr. Elena Pope said, “I think we dermatologists are in the very privileged position to be the first consultant to alert patients of some of those very rare associations where the skin and the heart interact in more than one way.”

“We need to do early screening. All of us can order an electrocardiogram or an echocardiogram for these patients. If you are fortunate, you can get early access to cardiologists, but many of us may not be that fortunate.” Dr. Pope is Head of Division of Pediatric Dermatology at the Hospital for Sick Children in Toronto.

Dr. Pope underlined that it is important for dermatologists to develop an approach to managing genetic skin diseases that may have cardiac manifestations, with components of that approach including early referral of patients to cardiology and referral of patients for genetic testing and counselling.

Conditions identified through phenotypic clues

There are genetic conditions, RASopathies, that are caused by mutations in the RAS/MAPK signalling pathway and that present with dermatologic symptoms and also have an impact on cardiac health, Dr. Pope noted.

Some of those conditions include Noonan Syndrome, Costello Syndrome, and Cardio-Facio-cutaneous (CFC) Syndrome, all of which can potentially be identified through their phenotypic presentations, said Dr. Pope, adding that Noonan Syndrome and CFC Syndrome are associated with developmental delay while Costello Syndrome is associated with failure to thrive and possible development of a malignancy such as rhabdomyosarcoma.

When skin, hair abnormalities, and heart diseases occur together, this likely suggests Naxos Syndrome or Carvajal Syndrome, she said.

“What is interesting about Naxos Syndrome and Carvajal Syndrome is that in both conditions, patients have very curly hair.”

In both of these conditions, genetic testing needs to be conducted and patients must be referred to cardiology because of a high risk of developing cardiomyopathy.

Epidermolysis bullosa (EB) and heart concerns

One of the possible conditions that can occur in patients with EB is dilated cardiomyopathy, and it can present in several EB subtypes, noted Dr. Pope.

She was the senior investigator of a retrospective, multi-centre study that involved 15 patients with EB, either recessive dystrophic EB or junctional EB, with a mean age at diagnosis of 12.4 years. Patients had poor nutritional status, with low selenium levels and low carnitine levels as well as anemia. After a follow-up of six years, seven patients died.

“What we discovered when we put the [EB] cases together is that patients with primarily recessive dystrophic EB, and some of the junctional EB cases, developed a dilated cardiomyopathy,” said Dr. Pope. “What is important is to diagnose the dilated cardiomyopathy early. If patients were on medication, they tended to be stable and the outcome was not death.”

A specific type of EB resulting from mutations of the KLHL24 gene typically presents with a patient having blistering skin and skin fragility at birth. Ongoing evaluation is needed for these patients because their cardiovascular health may be at serious risk, even if their skin gets better over time, explained Dr. Pope.

“Sometimes these blisters may heal with stellate scarring and hyperpigmentation or hypopigmentation, and the patient’s skin improves with age,” said Dr. Pope. “A lot of these patients may never come back to see you because their skin gets better. But they may develop dilated cardiomyopathy in the second decade of life, so it is very important to monitor them long term and emphasize to them that they need to come and see you again.”

To apply for a complimentary* subscription to The Chronicle of Skin & Allergy, a scientific newspaper providing news and information on practical therapeutics and clinical progress in dermatologic medicine, please email health@chronicle.org with your contact information.