Scratching the surface, and then some
Experts explored the complexities of treating ichthyosis.
What makes an itch complex? During Friday’s session, U010 – Think Like an Expert About Ichthyosis, a panel of dermatologists shared their expertise in managing patients with unfamiliar, uncommon, and complex skin disease.
Cheryl Bayart, MD, MPH, FAAD, assistant professor of dermatology and pediatrics at the University of Cincinnati, led the interactive discussion, which explored cases that often perplex dermatologists and lack established management guidelines or FDA-approved treatments. Dr. Bayart also credited Sarah Asch, MD, FAAD, who was not able to attend, with serving as her co-director and contributing to the session. Dr. Asch is a North Oak, Minnesota, pediatric dermatologist and chair of the Foundation for Ichthyosis and Related Skin Types (FIRST) Medical and Scientific Advisory Board, a patient advocacy organization dedicated to improving lives and seeking cures for those affected by ichthyosis and related skin types.
“The best approach for a rare disease is to marshal a broad scope of your available resources and partner with your patient and their family. With rare conditions, it is important to be humble and ask for help, and be brave enough to tell families you do not have answers yet, but you are going to find out, and ask experts in the field who you may have never met,” Dr. Bayart said. “As dermatologists, we are accustomed to scouring the medical literature and reaching out to our colleagues for assistance with challenging cases.”
Scratching your head about ichthyosis?
According to Dr. Bayart, patients with rare conditions like ichthyosis often have practical questions about daily skin care or managing other aspects of life such as activities, travel, and school that are often beyond the expertise of their physicians.
Unfortunately, many dermatologists are inexperienced in the management of ichthyosis, she said. Treating a patient with the condition requires “true engagement with your patient and renewed curiosity about a disease process you may not have thought about since residency,” Dr. Bayart said. Accessing a patient support group, such as FIRST, asking experts, and seeking information about clinical trials can help.
A human condition
Any condition that causes an apparent physical difference can have a profound impact on a patient and their family, so it’s important to tap the right emotional resources, she said. Sadly, some individuals with ichthyosis have been denied boarding on airline flights because someone thought their skin was infectious and have been turned away from common activities, such as blood donation. In another example, Dr. Bayart said babies affected by ichthyosis were depicted as mutants in a recent movie trailer. It has since been edited after FIRST and families advocated against the portrayal.
“These can be profoundly painful experiences, compounded by the grind of hours of daily skin care, which can be challenging and labor intensive. Because ichthyosis is so rare, affected individuals and their families often don’t know anyone else who is affected, and feel very alone,” she said. “It can be life-changing to connect with a community of individuals and families who are living similar experiences as well as to have a source of advocacy when needed.”
According to Dr. Bayart, FIRST has a family conference every other year which can be the basis of life-long friendships, support, and identifying areas of advocacy for change. Dermatologists and resident physicians are welcome, and often attend after being invited by a patient to attend and learn.
“Seeing your doctor at a local conference dedicated to your rare condition is deeply meaningful, and an afternoon of the physician’s time is a small commitment,” she said. “Additionally, dermatologists need to complete referral forms for affected children and teens to attend Camp Discovery, a free camp for kids with skin conditions which is sponsored by the AAD.”
More than skin deep: genetic testing
In the management of ichthyosis, more attention is being given to the role of genetic testing. This move can be controversial because it changes the thinking of what dermatologists learned in residency, Dr. Bayart said. For example, most residents considered barrier creams and oral retinoids to be the only treatments for ichthyosis. This is no longer true, she said. With increasing knowledge of the underpinnings of disease, including the role of inflammation, treatments are rapidly emerging, including repurposing some biologics for treatment, and genetic diagnosis can help guide the future development of treatments.
“We are learning more about the effects of long-term inflammation on joints and metabolic processes, and that ichthyosis is more than skin deep,” she said. “Genetic testing can to some degree help physicians provide patients with anticipatory guidance regarding clinical course and prognosis. Identifying the mode of transmission can help provide reproductive counseling.”
Dr. Bayart pointed to the tremendous advances in genetic testing in recent years, including in the field of ichthyosis. For example, The Ichthyosis Project, led by Keith Choate, MD, FAAD, has played an integral role in identifying causative genes and characterizing genotype-phenotype correlations. As genetic research advances, dermatologists will be better equipped to identify targeted therapies to address the pathogenesis of each condition.
These therapies are often more effective and have fewer adverse effects than less targeted, more traditional therapies, Dr. Bayart said. One of the earliest and most striking examples of this is the use of compounded cholesterol-lovastatin cream to treat skin findings associated with CHILD syndrome (congenital hemidysplasia with ichthyosiform erythroderma and limb defects), which is caused by an abnormality in cholesterol metabolism.
“It takes a village to help patients with ichthyosis to live their best lives, and it is essential for dermatologists to be educated about, and not intimidated by, these conditions and play an active role in these patients’ care,” Dr. Bayart said.
Camp Discovery offers children living with a chronic skin condition a one-of-a-kind camp experience.
Children must be referred to Camp Discovery by a dermatologist in order to attend. There is no cost to the families for a child to attend.
To refer a patient, simply download the camper referral form and submit it back to the Academy by email/fax. For questions, please contact [email protected].
Provided at no cost to the families, Camp Discovery is one week of fun for kids with conditions ranging from eczema and psoriasis, to vitiligo and alopecia, to epidermolysis bullosa and ichthyosis.
You may also learn more about how you can support Camp Discovery at https://www.aad.org/member/career/volunteer/camp.
