FIRST Patient Voice Survey Finds Rare Skin Disease Takes Toll Far Beyond the Skin

Nine in 10 respondents report emotional toll, while survey findings point to social isolation, burdensome care routines, difficulty finding knowledgeable doctors, and urgent need for new treatments

LANSDALE, Pa.--(BUSINESS WIRE)--The Foundation for Ichthyosis & Related Skin Types (FIRST) today announced results from its Patient Voice Survey showing that nine in 10 people affected by ichthyosis and related skin types reported emotional or psychological impacts from their condition. The first major survey of people and family members affected by these rare genetic skin disorders captures the lived experiences of patients and caregivers and shows how ichthyosis can affect daily routines, social relationships, access to care, treatment burden, and hopes for better therapies.

Ichthyosis is a family of rare, genetic skin diseases characterized by dry, cracked, scaling skin that may be thickened or very thin. At least 300 babies are born each year with a moderate to severe form of ichthyosis. There is currently no cure, and no treatments have been approved by the U.S. Food and Drug Administration specifically for ichthyosis.

The Patient Voice Survey was designed to move beyond clinical descriptions of ichthyosis and better understand how the condition affects daily life, family routines, access to care, emotional well-being, and hopes for better treatments.

“The findings confirm that ichthyosis affects far more than the skin,” said Chris Boynton, CEO of FIRST. “It can shape daily routines, emotional well-being, social relationships, access to care, and hopes for better treatments. The survey gives us a clear mandate from the community to develop more support resources and accelerate research to find better treatment options for people and families affected by ichthyosis.”

Key Findings:

• Ichthyosis has significant emotional and social impacts: 9 in 10 respondents reported emotional impacts, and 8 in 10 said ichthyosis impacts their social life.
• Daily care routines can be burdensome: about 7 in 10 respondents said their treatment regimen is burdensome or difficult to follow. Three-quarters spend 30 minutes or more each day on their regimen, including one-quarter who spend 1–2 hours daily. Nearly three-quarters spend more than $50 per month on supplies, and about 1 in 5 spend $200 or more per month.
• Finding knowledgeable care remains difficult: more than half experienced delays getting the correct diagnosis, and two-thirds found it hard to find a doctor who understands ichthyosis or is willing to learn about it.
• Patients and families need more information and support: respondents identified needs including specialist access, educational materials, peer support, mental health resources, financial assistance, and clearer treatment information.
• Research is an urgent priority: 85% identified new treatments as a key research priority, and 6 in 10 said they want more information about clinical trials and research advances.

The findings show that families need support today, even as FIRST and the broader research community work toward better treatments. They also point to sources of strength, including self-advocacy, greater understanding of the condition, support from family and peers, and connection with others affected by ichthyosis.

Peer Support Navigator Program Offers Connection and Support

To help address the need for connection and practical guidance, FIRST has launched its Peer Support Navigator Program, which connects people affected by ichthyosis and related skin conditions with trained volunteer peers who understand many of these experiences firsthand. Through one-on-one support and shared experience, Peer Support Navigators help individuals and families feel more informed and less alone. Navigators do not provide medical advice, diagnosis, or treatment recommendations.

“No one affected by ichthyosis should feel like they have to make this journey alone,” said Boynton. “The Peer Support Navigator Program gives individuals and families a way to connect with someone who understands many of the challenges that can come with ichthyosis and can help point them toward FIRST resources and support.”

Accelerating Research to Find New Treatments

Eighty-five percent of respondents identified new treatments as a key research priority, and 6 in 10 said they want more information about clinical trials and research advances.

“It is increasingly clear that we need to understand the inflammatory, genetic, molecular, and biological drivers of these conditions if we are going to develop more effective therapies,” said Christopher Bunick, MD, PhD, Associate Professor of Dermatology at Yale School of Medicine, and member of FIRST’s Board of Directors and Medical and Scientific Advisory Board. “That will require bringing more researchers, clinicians, industry partners, and patients together around a shared research agenda.”

FIRST has developed a Strategic Research Plan to advance patient-centered research, improve collaboration, elevate the patient voice within the research ecosystem, and help ensure that future studies and clinical trials reflect outcomes that matter to patients and families. The plan is organized around four key pillars:

• Accelerate discovery, close knowledge gaps, and drive innovation in basic, translational, and clinical research.
• Foster collaboration among patients, researchers, clinicians, industry, government agencies and other partners to align priorities and accelerate progress.
• Elevate the patient voice to ensure patient and caregiver experiences help shape research, advocacy, clinical trial design, and policy priorities.
• Position FIRST as a trusted hub for research information, patient education, clinical trial awareness, and community support.

“These findings reinforce the importance of listening directly to the community and allowing patient and family experiences to guide FIRST’s priorities,” said Sean McTernan, Chair of the FIRST Board of Directors, and father of an affected child. "The survey gives us both a responsibility and an opportunity to strengthen support now, while using these insights in collaboration with our Medical and Scientific Advisory Board to inform future research and clinical trial priorities, and advocate for treatments that better reflect the real-world burden of ichthyosis.”

About the Patient Voice Survey

The online survey was conducted in 2025 to better understand the burden of disease and lived experience of people affected by ichthyosis, including the challenges patients and families face in understanding, managing, and seeking support for these lifelong conditions. The survey received 177 responses from people living with ichthyosis and parents or guardians of children with the condition.

Additional information about the Patient Voice survey can be found here.

To learn more about FIRST’s Peer Support Navigator Program, click here.

About FIRST

The Foundation for Ichthyosis & Related Skin Types, Inc. (FIRST) is the leading patient advocacy organization dedicated to improving lives and seeking cures for those affected by ichthyosis and related skin disorders. FIRST provides information, education, advocacy, peer support, and research leadership for individuals and families affected by these rare conditions.