A large national health database is helping researchers better understand a question that has been difficult to answer: Are people with congenital ichthyosis at greater risk for certain skin cancers?
People living with congenital ichthyosis know that their skin requires special attention every day. Now, new research is providing additional information about another important aspect of long-term skin health: skin cancer risk.
A recent study published in the Archives of Dermatological Research used information from the National Institutes of Health (NIH) All of Us Research Program to examine whether people with congenital ichthyosis have different rates of skin cancer compared with people without the condition.
The researchers found that people with congenital ichthyosis had higher odds of developing actinic keratosis, melanoma, and basal cell carcinoma compared with a matched group of people without congenital ichthyosis. The study did not find a statistically significant association between congenital ichthyosis and squamous cell carcinoma.
These findings are important, but they also need to be understood in context.
Why is this research important?
Congenital ichthyoses are rare genetic disorders that affect how the skin develops and functions. The skin may have problems forming and maintaining its protective barrier, which can lead to scaling, dryness, inflammation and other symptoms.
Because ichthyosis is rare, it can be difficult for researchers to study long-term health risks. A single dermatologist or medical center may see only a relatively small number of patients with a particular type of ichthyosis.
In the past, reports of skin cancer in people with ichthyosis have mostly come from individual cases or small groups of patients. Those reports can alert doctors and researchers to a possible connection, but they cannot tell us how frequently something occurs across a larger population.
This is where the All of Us Research Program can help.
What is the All of Us Research Program?
All of Us is a large NIH research program that collects health information from people across the United States. The goal is to help researchers better understand how differences in genetics, lifestyle, environment, and health affect disease.
For rare diseases, having access to a large database can be especially valuable.
In this study, researchers identified 198 people with congenital ichthyosis in the All of Us database. They compared them with 2,376 people without congenital ichthyosis who had similar characteristics. This allowed researchers to look for differences in skin cancer diagnoses while taking other factors into account.
What did the researchers find?
The study found that congenital ichthyosis was associated with higher odds of:
- Actinic keratosis (AK) – about 3.6 times higher odds
- Melanoma – about 2.4 times higher odds
- Basal cell carcinoma (BCC) – about 1.9 times higher odds
The study did not find a statistically significant association between congenital ichthyosis and squamous cell carcinoma (SCC).
Does this mean everyone with ichthyosis will develop skin cancer?
No.
This study does not mean that a person with congenital ichthyosis will develop skin cancer.
The researchers found an association between congenital ichthyosis and certain skin cancer diagnoses in this particular population. An association does not tell us that ichthyosis itself directly causes cancer, nor does it predict what will happen to any individual person.
It is also important to remember that congenital ichthyosis includes many different conditions and subtypes. The researchers were not able to separate the results by individual ichthyosis subtype because of the limited number of participants.
More research is needed to understand whether the risk differs among specific types of ichthyosis.
Why might there be a connection?
Researchers do not yet have a definite answer.
Several possible explanations are being considered, including the effects of chronic inflammation and disruption of the skin barrier. However, these are possible explanations, not proven causes of skin cancer in people with ichthyosis.
Another challenge is that identifying skin cancers in people with ichthyosis can sometimes be difficult. Changes such as redness, scaling, thickening or other unusual areas of skin may already be part of a person’s everyday experience with ichthyosis.
The researchers noted that this could potentially make some skin cancers, particularly squamous cell carcinoma, more difficult to recognize.
What does this mean for people with ichthyosis?
The authors suggest that the findings support routine skin cancer surveillance for people with congenital ichthyosis, while additional research is conducted.
For people living with ichthyosis, this is a good reminder to maintain regular communication with your dermatologist and other members of your healthcare team.
Talk with your healthcare provider about:
- Regular full-body skin examinations
- Any new or changing spots, bumps, sores, or areas of concern
- Changes that do not heal as expected
- Your individual sun-protection needs
- Whether your medical history or type of ichthyosis may affect your recommended skin-care or screening routine
Do not assume that a new or changing area is simply part of your ichthyosis. If something looks or feels different from your usual skin, bring it to the attention of your healthcare provider.
An important step forward for rare disease research
Perhaps one of the most exciting parts of this study is not just what researchers learned about skin cancer. It is how they were able to learn it.
Rare diseases often face a basic challenge: there simply aren’t enough patients at any one medical center to answer every important question.
Large databases such as All of Us provide another tool.
They can give researchers access to larger and more diverse groups of people and, importantly, allow them to compare people living with a rare disease with people who do not have that disease.
This doesn’t replace clinical studies, disease-specific registries, or research focused on individual ichthyosis subtypes. Instead, it adds another piece to the puzzle.
The researchers have already used other large datasets to examine their findings further, and additional All of Us research is exploring other health concerns affecting people with congenital ichthyosis.
What comes next?
This study raises important questions that future research can help answer:
- Does skin cancer risk differ among specific types of congenital ichthyosis?
- What factors may contribute to the increased odds of certain skin cancers?
- Are there specific screening recommendations that would benefit people with different types of ichthyosis?
- Can larger studies provide more precise information about individual risks?
- How can doctors better recognize skin cancers when they occur on ichthyosis-affected skin?
As the All of Us database continues to grow, researchers may have an even greater opportunity to investigate these and other unanswered questions.
The bottom line
This research adds important evidence to our understanding of skin cancer and congenital ichthyosis, but it is not a reason to panic.
Instead, it reinforces the importance of regular dermatology care, paying attention to changes in your skin, and talking with your healthcare provider about appropriate skin cancer surveillance.
Instead, it reinforces the importance of regular dermatology care, paying attention to changes in your skin, and talking with your healthcare provider about appropriate skin cancer surveillance.
For the ichthyosis community, the study also demonstrates why rare disease research matters. By bringing together information from people across the country, researchers can begin answering questions that have been difficult – or impossible – to study using smaller groups of patients.
Every new study adds another piece to the puzzle. And with larger resources like All of Us, researchers have new opportunities to find those missing pieces.
https://rarediseases.org/skin-cancer-risk-in-congenital-ichthyoses-how-all-of-us-data-supports-real-world-rare-disease-research/
This article is for educational purposes and is not intended to provide individual medical advice. Talk with your dermatologist or healthcare provider about your personal skin cancer risk and recommended screening.
