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 - June 2021
Ichthyosis: A Road Model for Skin Research - 2020
Review article published in Advances in dermatology and venereology by FIRST Research Grant Recipients Anders VAHLQUIST and Hans TÖRMÄ, Department of Medical Sciences, Uppsala University, Uppsala, Sweden
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.