Zaenglein AL, Levy ML, Stefanko NS, Benjamin LT, Bruckner AL, Choate K, Craiglow BG, DiGiovanna JJ, Eichenfield LF, Elias P, Fleckman P, Lawley LP, Lewis RA, Lucky AW, Mathes EF, Milstone LM, Paller AS, Patel SS, Siegel DH, Teng J, Tanumihardjo SA, Thaxton L, Williams ML; PeDRA Use of Retinoids in Ichthyosis Work Group.Zaenglein AL, et al. Pediatr Dermatol. 2020 Nov 10. doi: 10.1111/pde.14408. Online ahead of print.Pediatr Dermatol. 2020. PMID: 33169909
Quarterly Research Literature Review - October 2020
National Registry for Ichthyosis and Related Skin Types Plays Key Role in Yale Genetic Discovery - Keith Choate, MD, PhD - 6/2017
In a recent study, researchers from Dr. Keith Choate’s laboratory at Yale University, took a unique approach to examining genetic data provided by patients enrolled in the Ichthyosis Registry. The outcome was the identification of the genetic cause for a rare subtype of Progressive Symmetric Erythrokeratoderma (PSEK) and discovery that a commonly used acne medication, isotretinoin (Accutane), could almost entirely eliminate the skin disease. The study results also highlight the central role of ceramides in skin health, and their value as common ingredients in many moisturizers.
Research Reveals Reason for Perplexing Redness Associated with Ichthyosis and Other Skin Disorders, Amy Paller, MD - 10/2016
In a new study published in the Journal of Allergy and Clinical Immunology, Dr. Paller, the Northwestern Medicine chair of dermatology, Northwestern Medicine, together with Dr. Emma Guttman-Yassky of Mount Sinai Medical School, discovered that an arm of the immune system – the Th17 pathway – in these patients is way too active, and the higher its activity, the worse the disease severity. Dr. Paller has just launched a clinical trial to test a new biologic (a cutting-edge drug), with the goal of targeting and calming down this pathway.
From Difficult Case to New Syndrome - Keith Choate, MD, PhD - 12/2015
An Interview with Keith Choate and the Phelps Family
When Keith Choate, MD, PhD speaks about his research program to identify and understand new genetic causes of ichthyosis, he always begins by discussing the importance of genetics to medicine. He notes that it has the power to provide genetic diagnoses, to identify new genes for novel disorders, and to identify pathways which could be therapeutically relevant.
Prioritization of Therapy Uncertainties in Congenital Ichthyosis Study - Angela Hernandez Martin, MD - 9/2015
Prioritization of Therapy Uncertainties in Congenital Ichthyosis Study
Detecting the lack of knowledge with regard to rare disease therapies is particularly important for establishing a research agenda that matches the specific needs of the patient. Therefore, patient participation is a critical element to the research advancement of many studies regarding rare conditions of the skin.
X-linked Ichthyosis Chromosomal Microarray Testing - Jennifer Hand, MD - 3/2015
X-linked Ichthyosis Chromosomal Microarray Testing
Is it possible that a milder form of X-linked ichthyosis is more common that we thought?
Chromosomal Microarray (CMA) is usually a blood test that has become a common method to test babies born with multiple birth defects (congenital anomalies) for a genetic underlying cause. CMA is very effective at screening the whole genome of an individual for chomosome deletions.
Infection Related to KID Syndrome - Patel V, Sun G, Dickman M, Khuu P, Teng JM, University of California, Irvine, California - 12/2014
Latest Research on Treatment for Infection Related to Keratitis-Ichthyosis-Deafness (KID syndrome)
Keratitis-ichthyosis-deafness (KID) syndrome is a rare hereditary cornification disorder resulting from mutations in connexin 26, a protein important for intercellular communication. In addition to the characteristic clinical triad of congenital bilateral sensorineural hearing loss, keratitis (inflammation of the cornea), and erythrokeratoderma (plaques of redness and scaling), affected individuals also suffer from chronic bacterial and fungal infections and have an increased risk of benign and malignant cutaneous tumors.
Topical Tazarotene - Brittany Craiglow, MD, Keith Choate, MD, PhD, Leonard Milstone, MD - 11/2013
Topical Tazarotene for the Treatment of Ectropion in Ichthyosis
Many individuals affected with ichthyosis cite ectropion – an abnormal eversion of eyelids – as one of the most cosmetically displeasing aspects of their skin disorder. And although ectropion almost universally improves beyond the neonatal period, it can persist throughout life and medical consequences including keratitis,* conjunctivitis,* and epiphora* can ensue.
The Shedding Process - Peter Elias, MD - 6/2013
Bathing Completes the Shedding Process ... naturally
Bathing may be even more important to the shedding process, than previously considered, as it does not only cleanse our skin of dirt and other external debris, it completes the natural process of desquamation, sweeping away spent and finished epidermal cells.
Study estimates number of ichthyosis patients in US
There are widely accepted incidence figures for the common forms of ichthyosis, ichthyosis vulgaris, and X-linked ichthyosis. Until now, however, figures for the incidence of rarer, generally more severe forms of ichthyosis have been approximations. Accurate figures for incidence of moderate to severe ichthyosis are important when advocating on behalf of those affected and when requesting funds from governmental or private, non-governmental agencies.
Pathogenesis-Based Therapy Reverses Cutaneous Abnormalities in an Inherited Disorder of Distal Cholesterol Metabolism
Although the scaling that characterizes ichthyosis often occurs as the body's attempt to provide a better barrier against water loss and protection from the outside, peeling agents and moisturizers are the way most ichthyosis is treated. During the past decade or two, however, scientists have discovered the genetic and biochemical basis of most forms of ichthyosis. These discoveries provides an opportunity to use mechanism-targeted topical therapy.