Ichthyosis Related Research Articles

Ichthyosis Incidence Study - Leonard Milstone, MD - 10/31/12
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 - Amy Paller, MD - 10/2/12
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.
ELOVL4 Deficiency - William B. Rizzo, MD - 2011
A New Form of Ichthyosis Discovered by Next-Generation DNA Sequencing

Recent advances in “Next-Generation” DNA sequencing technologies promise to revolutionize the ability to diagnose patients with genetic diseases and discover new forms of ichthyosis not previously recognized. These new methods, including “whole exome sequencing”, allow researchers to detect alterations or mutations in the functional parts of all of the genes. A recent example of the power of these DNA sequencing methods is the identification of a new form of ichthyosis caused by mutations in the gene called ELOVL4 that codes for an enzyme with the same name.
Frontiers in Ichthyosis Research  -  2010
Meeting Report

Frontiers in Ichthyosis Research, an international meeting of investigators actively involved in research directly related to ichthyosis, was held in June 2010, immediately preceded FIRST's bi-ennial family conference.
Zebrafish Model  -  Qiaoli Li, PhD; Jouni Uitto, MD, PhD   -  2010
How to make ichthyosis (fish scale disease) in fish

Ichthyosis (derived from the ancient Greek word meaning “fish”)refers to a group of disorders in which skin is dry and scaly often from birth. There is quite a lot of variability in the severity of this skin condition: In the milder forms skin is just dry, especially during winter months, while in the most severe cases, large scales are present which can affect the individual’s well being and survival. Through the work of several investigators, it is now clear that alterations in many different genes can cause ichthyosis in patients, and the types of mutations and the genes harboring such mutations can explain the tremendous variability in the disease severity.
Dominant Mutations in KRT10  -   Keith Choate, MD, PhD et al.  -  2010
Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10

Errors in the copying of genes during cell division can cause numerous diseases, including cancer. Yale School of Medicine scientists, however, have unraveled the secrets of a rarer phenomenon with potential therapeutic implications–disease-causing genes that show a high frequency of self-repair. In the August 26 issue of Science Express, the Yale team describes how one mutated copy of a gene called keratin 10 causes a severe skin disease known as ichthyosis with confetti. However, amidst the diseased skin, these patients also have hundreds to thousands of spots of normal skin.
 
TGM1 Mutations  -  Richard L. Eckert, PhD; Haibing Jiang, PhD  -  2010
Research identifies new mechanism by which TGM1 mutations may cause ichthyosis (2010)
It has been known for nearly a decade that the type I transglutaminase gene is mutated in at least 50% of all cases of autosomal recessive congenital ichthyosis (ARCI). However, understanding how these mutations lead to disease pathology is not well understood. As part of an effort to better understand the cause of this disease, Dr. Richard Eckert and colleagues at the University of Maryland School of Medicine in Baltimore recently studied the subcellular processing of normal and mutant transglutaminase in human skin cells.

 


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