Ichthyosis Related Research Articles
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.
Autosomal Recessive Ichthyosis - Richard Eckert, MD & Kapil Mehta, MD - 7/2012
Understanding Autosomal Recessive Congenital Ichthyosis (ARCI)
Autosomal recessive congenital ichthyosis (ARCI) is an inherited genetic disease that affects 1 of every 250,000 people. It includes lamellar ichthyosis (i.e. the plate-like scales) and CIE (i.e. congenital ichthyosiform erythroderma). The type I transglutaminase (TG1) gene is mutated in many of these disease patients. The TG1 protein is required for skin maturation and mutation of this protein results in deficient epidermal cornification leading to an abnormal epidermal surface including the production of plate-like “fish” scales. TG1 mutations are found in a significant percentage of ARCI patients; however, understanding how these mutations lead to disease pathology is not well understood.