FIRST Quarterly Literature Review, June 2021
Title: Inherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies
Journal: Journal of the German Society of Dermatology
Publication Type and Date: Systematic review article, March 2021.
Reference: Miao H, Dong R, Zhang S, et al. Inherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies. J Dtsch Dermatol Ges. 2021.
People with ichthyosis may have a higher risk of developing skin fungal infections compared to the general population. Authors of this article reviewed cases of fungal infections in ichthyosis over the past 50 years to summarize the causes, signs and symptoms, diagnosis, and treatments. The increased risk of fungal infections in ichthyosis is likely multifactorial. In ichthyosis mutated proteins alter the skin’s “barrier function”, decreasing its ability to keep out organisms like bacteria and fungi. At the same time, in some forms of ichthyosis, such as KID (keratitis, ichthyosis, and deafness), cells that fight infection in the skin are missing or dysfunctional. Lastly, abnormal keratin production and impaired skin cell turnover in ichthyosis may also create a unique environment in which some fungi thrive.
It can be difficult to identify skin fungal infections in people with ichthyosis due to dry or scaling skin, itchiness, or redness at baseline. Importantly, fungal infections tend to present with new alopecia (hair loss), papules (bumps), pustules (bumps with pus), or worsening of scaling especially in warmer summer months. Both ichthyosis and fungus can also lead to yellow, thick and brittle nails. In cases of fungal infection, these changes tend to be new and affect fewer nails, sometimes only one. Treatment options include both topical and oral antifungal medications. In some people with ichthyosis, infections may be severe or recurrent, and a combination of topical and oral medications are preferred.
People with ichthyosis have more fungal skin infections than the general population and diagnosis can be difficult. Fungal infections should be considered in new or worsening hair loss, bumps, pustules, worsening scale, or changes to nails. If any of these symptoms arise, people with ichthyosis should discuss them with their primary care doctor or dermatologist.
Title: Use of telemedicine for ichthyosis: patient advocacy group as conduit to expert physician advice
Journal: Pediatric Dermatology
Publication Type and Date: Retrospective cohort study, January 2021.
Reference: Asch S, Swink SM, Vivar KL, et al. Use of telemedicine for ichthyosis: Patient advocacy group as conduit to expert physician advice. Pediatr Dermatol. 2021.
The FIRST Tele-Ichthyosis program began in 2009 and allows for physicians around the world to refer cases of known or possible keratinizing disorders to a group of peer and patient-selected volunteer ichthyosis experts. The goal is to increase access to care for patients who may struggle to find local expertise of these rare conditions. The authors reviewed the strengths, limitations, and use of this program over the past decade. The expert panel reviewed a total of 88 cases since the program’s inception from the United States, Canada, the Caribbean, South America, Europe, Africa, Asia, and the Middle East. The number of cases has increased over the years since inception. The submitting physicians requested insight into treatment, diagnosis, and genetic testing information. The volunteer panel diagnosed ichthyosis in 66% of cases that were reviewed. About 2/3 of submitting physicians described the service as easy to use and reported timely, clear, and beneficial advice. A re-design is underway to maximize the usability of the site. Expert advice obtained through the Tele-Ichthyosis program aided longitudinal care, as submitting providers shared advice during transitions of care to clinicians and caregivers.
Some people with ichthyosis do not have local access to expert opinion. The FIRST Tele-Ichthyosis program provides these patients and their local providers with insights from a panel of ichthyosis experts. This program will continue providing advice on diagnosis, treatment, and other aspects of keratinizing disorders and serves as an example of how telemedicine can benefit treatment and care across the world for rare diseases.
Title: Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
Journal: Pediatric Dermatology
Publication Type and Date: Consensus recommendations, January 2021
Reference: Zaenglein AL, Levy ML, Stefanko NS, et al. Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents. Pediatr Dermatol. 2021.
Retinoids are vitamin A derivatives that work to reduce scaling and thickening of the skin in many ichthyoses and are essential to management. A group of expert physicians from the Pediatric Dermatology Research Alliance (PeDRA) convened to address the use of both topical and systemic retinoids in ichthyoses and other disorders of cornification. The impact of long-term retinoids on bone, eye, reproductive and psychiatric health were reviewed with the goal of creating recommendations for drug dosing and monitoring. Specific considerations and guidelines are outlined in the paper, and individuals taking systemic retinoids should work with a provider who is familiar with retinoids and disorders of cornification to minimize side effects.
Overall, the likelihood of side effects depends on many factors and tends to occur after long periods of use. The benefits of systemic retinoids in treating ichthyoses often outweigh the risks, and they should always be considered if topical therapies do not provide sufficient improvements, the burden of disease is high, or if there is a significant impact on quality of life. Proper monitoring while on systemic therapy will decrease the risk of unidentified side effects. Research will continue to improve our understanding of retinoids’ effects on the body. Updated consensus recommendations will follow as additional research is produced.
Topical and systemic retinoids are recommended for the treatment of ichthyoses and other diseases of cornification. The benefits of systemic retinoids often outweigh the risks, and regular monitoring for side effects is an effective measure in preventing long term impacts of these medications.
Title: Increased risk of depression and impairment in quality of life in patients with lamellar ichthyosis
Journal: Dermatologic Therapy
Publication Type and Date: Cross sectional; January 2021.
Reference: Cortés H, Rojas-Márquez M, Reyes-Hernández OD, et al. Increased risk of depression and impairment in quality of life in patients with lamellar ichthyosis. Dermatol Ther. 2021.
Lamellar icthyosis (LI) is one of the most severe clinical phenotypes of ichthyosis and is characterized by thick plate-like scales, itch, pain, alopecia (hair loss), and erythema (redness). This disease has been shown to negatively impact quality of life (QoL). In this study, the investigators identified 26 people with LI and 26 healthy controls from Mexico and used the Depression Beck Inventory II (DBI-II) and Dermatologic Life Quality Index (DLQI) to assess depression and impairment in QoL between the two groups. The Congenital Ichthyosis Severity Index (CISI) was used to determined severity of LI at the time of the surveys. There was a significant difference in DBI-II scores between people with LI and healthy volunteers, indicating higher levels of depression in people with LI. When factoring in the severity of LI using the CISI, there were no differences in levels of depression or impairments to QoL between mild or severe disease. Those with high levels of depression documented larger impairments in QoL. Although this study had a small number of patients, it highlights the impact that LI can have on mental health and to what extent it can impact quality of life, even in mild disease severity. It suggests the importance of mental healthcare in maximizing health and wellbeing in people with LI.
LI is associated with higher rates of depression when compared to healthy controls and has a significant impact on quality of life regardless of disease severity. Mental healthcare is an important aspect of LI healthcare, and there should be regular discussions about mental health and wellbeing.