What are Patient Listening Sessions? 

Patient Listening Sessions can either be FDA-requested (where FDA has a specific set of questions to ask) or patient-led (when a patient community wants to share their perspectives with the FDA). Patient Listening Sessions: 

  • Are small, informal, non-regulatory, non-public teleconference meetings that allow participants to connect with FDA staff first-hand 
  • Are about patient experiences, perspectives, and needs related to their health or a disease, and not about specific medical products (drug, biologic, or device) 
  • Give the FDA an opportunity to connect with under-represented communities 
  • Help the FDA better understand what is most important to different communities and individuals who have specific health, medical, and treatment needs 
  • Should be of interest to medical product center staff in multiple FDA Centers/programs 
  • Should not be on the same set of agenda topics as a past meeting held or future meeting planned with FDA 

Ichthyosis Patient-led Listening Session

Friday, September 17, 2021

Objective of Session

The objective of this session was to provide context for the day-to-day challenges of living with a visible genetic skin condition with numerous complications and a time-consuming treatment regimen. Ichthyosis is more than skin blemishes and can be profoundly debilitating. Even moderate improvements in scaliness, redness or itch will provide life-changing benefits for those living with ichthyosis.

Summary of Topics Discussed

What is ichthyosis?

Ichthyosis is a large family of inherited skin disorders. Many gene mutations result in impaired permeability barrier and scaling as the skin over-produces new skin to compensate for faulty skin and desquamation. A study has determined that approximately 300 babies are born each year with a moderate to severe form of ichthyosis. Complications of the over-production and scaling cycle include infection, odor, itch, electrolyte imbalance, impaired growth in infants, inability to sweat, impaired mobility and alopecia.

Even within the same genetic mutation, patients present differently and respond differently to treatments. The redness, scaliness, itchiness, products used, frequency of use and severity of complications can all vary widely within the same skin and among the various skin types.

Besides the common scaling condition of the skin and depending on the severity, there may be associated psychological symptoms due to the abnormal appearance of the skin. Ichthyosis is disfiguring for most affected individuals. In addition to the numerous medical complications like dehydration, infections, chronic blistering, overheating, and rapid-calorie loss, patients with ichthyosis are subjected to psychological issues. Patients are often ostracized, and concerns of isolation, low self-esteem, and depression are common due to the appearance of their visible, chronically shedding skin.

From delivery to the NICU

Birth through Early Childhood

Early treatment of infants with ichthyosis is critical. Most parents are unaware they carry this gene and unprepared when their baby is delivered and is whisked away to the NICU. The first weeks are challenging as infection is a large concern.  Retinoids can play an important role in reducing mortality. In a 2011 study, babies without retinoid treatment had a 76% mortality compared with 17% for babies treated with retinoids.

Constant bathing and lotion applications are required. Within hours after a bath, skin builds up as does itchiness and irritation. The constant production of skin requires a much higher caloric intake. Surgeries to correct eye lid, mouth and hand complications that result from ichthyosis have varying degrees of success. Because of skin tightness in the legs and heavier buildup on the palms and soles of the feet, mobility can be painful and severely impaired.

Childhood through Adulthood

As children develop and become more active, the inability to sweat becomes more apparent. Regular participation in recess and youth sports is challenging if not impossible as the risk of heat exhaustion is a constant threat. Parents develop 504 plans and other special arrangements are necessary to deal with recess and gym class. 

Early childhood is filled with appointments, skin affects eyes, ears, mobility, speech, and infections. A child with moderate to severe ichthyosis makes frequent visits to physicians and needs increased assistance as they develop. Ophthalmology treatment is required because eye lids don’t close completely and tear ducts that lubricate and cleanse the eye don’t work properly. Ear appointments are necessary to clean out the excess layers of skin building up in the ear canals. Many children fail hearing tests. Mobility issues may require physical therapy. Because of skin tightness around the mouth, speech therapy may be needed. Increased allergies and arthritis are also common and require regular specialist visits.

Treatment and Management

Management of this condition is very time consuming. Each affected individual finds what works for them through trial and error. Lengthy bathing sessions are important to the shedding process, as it not only cleanses the skin of dirt and bacteria, but it also completes the natural process of desquamation, sweeping away spent and finished epidermal cells. Water swells the spaces between cells and when it evaporates, it is replaced by air which eventually allows individual cells to detach from the skin surface.  Several patients taking part in the session spoke of the importance of bathing to their regular management plan.

Affected individuals and their caregivers need to replace the skin’s natural barrier after baths and frequently throughout the day. Over-the-counter emollients and lotions are used as a barrier and to keep noticeable shedding down. Patients described the embarrassment of getting up from a chair at work or a restaurant and feeling they left half themselves on the chair and surrounding floor.

Patients described the process of combining various products into one cream or using different products at different times of the day. It is not uncommon for patients to mix lotions with other ingredients purchased on the internet like urea or glycerin. They also talked about the seasonality of creams and, depending on where they live, the need to change their treatment based on the time of year.

Mental Health

Mental health is an important part of living with ichthyosis. As a visible difference, people living with ichthyosis experience self-image issues, bullying and discrimination. Parents and family members of affected children endure constant stares, rude mothers asking why they left their child in the sun, and other children who run away from their kids.

Associated psychosocial conditions include anxiety and depression. Studies have shown a relationship between dermatological conditions and mental health, including a study on Ichthyosis. Patients talked about longing to feel “normal” and indicated that symptom management for their skin could lead to improvement in their mental health.

The Future of Therapies and Measurable improvement

An important part of the Ichthyosis research, Yale University School of Medicine houses the National Registry for Ichthyosis and Related Skin Types. There are 1,293 kindreds in the registry and a total of 1028 genetic diagnoses.  All samples are prescreened for mutations in 53 genes. The registry has assisted with the creation of rating tools, publications, and drug development.

Future challenges in Ichthyosis therapies include the timing of the intervention. Depending on the genetic mutation, there are periods of greater opportunity. Also, childhood is formative period for identity.  If safety is clear, moving trials to children early is important.

Unlike atopic dermatitis and psoriasis, a 2-point improvement in a global assessment may not be possible. Throughout the listening session, patients described the possibility of even modest improvements making a significant impact on quality of life. Another challenge is that despite trials in Ichthyosis, systemic retinoids are not FDA approved and this creates a barrier to access for patients, particularly for Medicare. FDA provided additional information regarding the regulatory process for the expansion of indications for use; specifically, only the marketing application holder may apply for an expansion of the approved indications for use.

Patients Represented


Skin Type


Father of Daughter 9 YOA

Harlequin Ichthyosis

White. Male 40s

Mother of Daughter 4 YOA

Harlequin Ichthyosis

White. Female 30s

Affected Individual

Lamellar Ichthyosis

White. Female 20s

Affected Individual

Lamellar Ichthyosis

White. Female 30s

Affected Individual

Lamellar Ichthyosis

White. Female 20s

Affected Individual

Lamellar Ichthyosis

Black. Male 50s

Affected Individual

Congenital Ichthyosiform Erythroderma

White. Female 30s

Presenters included four patients, two caregivers and two dermatology physician researchers

Partner Organization

The partner organization that helped identify and prepare patient community participants and medical professionals was FIRST – The Foundation for Ichthyosis and Related Skin Types.

FDA Offices Represented

Office of the Commissioner (OC) – 2 offices
•    OC/OCPP/PAS- Office of Clinical Policy and Programs/Office of Patient Affairs (organizer)
•    Office of Clinical Policy and Programs/Office of Orphan Products Development
Center for Biologics Evaluation & Research (CBER) – 2 offices
•    CBER/OCD - Office of the Center Director
•    CBER/OTAT – Office of Tissues and Advanced Therapies
Center for Devices and Radiological Health – 1 office
•    CDRH/OPEQ/OHTIV/DHTIVA - Office of Health Technology IV: Office of Surgical and Infection Control Devices

Center for Drug Evaluation and Research (CDER) – 5 offices/divisions
•    OCD – Office of the Center Director
•    CDER/OCD/PASES - Office of Center Director/Professional Affairs and Stakeholder Engagement Staff
•    OND/ODES/DCOA - Office of New Drugs/Office of Drug Evaluation Science/Division of Clinical Outcome Assessment
•    OND/ORPURM/DRDMG – Office of New Drugs/Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine/ Division of Rare Diseases and Medical Genetics
•    OND/OII/DDD/ - Office of New Drugs/Office of Immunology & Inflammation/Division of Dermatology and Dentistry

Discussions in FDA Disease Listening Sessions are informal. All opinions, recommendations, and proposals are unofficial and nonbinding on FDA and all other participants. This report reflects the FIRST’s account of the perspectives of patients and caregivers who participated in the Rare Disease Listening Session with the FDA. To the extent possible, the terms used in this summary to describe specific manifestations of Ichthyosis, health effects and impacts, and treatment experiences, reflect those of the participants. This report is not meant to be representative of the views and experiences of the entire Ichthyosis patient population or any specific group of individuals or entities. There may be experiences that are not mentioned in this report.

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