Ichthyosis

Common Name(s)

Ichthyosis

Ichthyosis is an umbrella term used to describe the many forms of inherited skin disorders in which dead skin cells accumulate in thick, dry scales on your skin's surface. Types of ichthyoses are classified by their appearance and their genetic cause. Ichthyosis vulgaris, accounts for 95% of all ichthyosis cases. Sometimes, mild cases of ichthyosis go undiagnosed because they're mistaken for extremely dry skin. Also, sometimes, other skin diseases, such as the allergic skin condition eczema, are associated with ichthyosis. Exposure to sunlight may improve or worsen the condition. In some cases, excess dead skin sheds much better from wet tanned skin after bathing or a swim, although the dry skin might be preferable to the damaging effects of sun exposure.

There is no cure for ichthyosis. The main goal of treatment is to moisturize and exfoliate. This helps prevent dryness, scaling, cracking and build-up of skin.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ichthyosis" for support, advocacy or research.

Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures.

Last Updated: 15 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Ichthyosis" for support, advocacy or research.

Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures.

http://www.firstskinfoundation.org

Last Updated: 15 Jul 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Ichthyosis" returned 310 free, full-text research articles on human participants. First 3 results:

In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report.
 

Author(s): Hui Shi, Xiao-Feng Qi, Tao-Tao Liu, Qian Hao, Xiao-Hong Li, Ling-Ling Liang, Yi-Miao Wang, Zhi-Hua Cui

Journal:

 

Pre-Descemet corneal dystrophy (PDCD) is characterized by the presence of numerous, tiny, polymorphic opacities immediately anterior to Descemet membrane, which is a rare form of corneal stromal dystrophy and hard to be diagnosed. In vivo confocal microscopy (IVCM) is a useful tool ...

Last Updated: 17 Mar 2017

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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
 

Author(s): Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Won-Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A Braun, Carolin E Sadowski, Eugen Widmeier, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Monica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, Francois P Bernier, A Micheil Innes, Jillian S Parboosingh, Ryan E Lamont, Julian P Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuss, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Nuria Lloberas, Alvaro Madrid, Vikas R Dharnidharka, Anne M Connolly, Marcia C Willing, Megan A Cooper, Richard P Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D Saba, Friedhelm Hildebrandt

Journal: J. Clin. Invest.. 2017 Mar;127(3):912-928.

 

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology ...

Last Updated: 6 Feb 2017

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Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26.
 

Author(s): Sanna Gudmundsson, Maria Wilbe, Sara Ekvall, Adam Ameur, Nicola Cahill, Ludmil B Alexandrov, Marie Virtanen, Maritta Hellström Pigg, Anders Vahlquist, Hans Törmä, Marie-Louise Bondeson

Journal: Hum. Mol. Genet.. 2017 Mar;26(6):1070-1077.

 

Revertant mosaicism (RM) is a naturally occurring phenomenon where the pathogenic effect of a germline mutation is corrected by a second somatic event. Development of healthy-looking skin due to RM has been observed in patients with various inherited skin disorders, but not in connexin-related ...

Last Updated: 3 Feb 2017

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Ichthyosis" returned 20 free, full-text review articles on human participants. First 3 results:

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
 

Author(s): Robert Gruber, Clare Rogerson, Christian Windpassinger, Blerida Banushi, Anna Straatman-Iwanowska, Joanna Hanley, Federico Forneris, Robert Strohal, Peter Ulz, Debra Crumrine, Gopinathan K Menon, Stefan Blunder, Matthias Schmuth, Thomas Müller, Holly Smith, Kevin Mills, Peter Kroisel, Andreas R Janecke, Paul Gissen

Journal: J. Invest. Dermatol.. 2017 Apr;137(4):845-854.

 

In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is involved ...

Last Updated: 26 Dec 2016

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From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.
 

Author(s): Isaac E García, Felicitas Bosen, Paula Mujica, Amaury Pupo, Carolina Flores-Muñoz, Oscar Jara, Carlos González, Klaus Willecke, Agustín D Martínez

Journal: J. Invest. Dermatol.. 2016 Mar;136(3):574-83.

 

The keratitis-ichthyosis-deafness (KID) syndrome is characterized by corneal, skin, and hearing abnormalities. KID has been linked to heterozygous dominant missense mutations in the GJB2 and GJB6 genes, encoding connexin26 and 30, respectively. In vitro evidence indicates that KID ...

Last Updated: 23 Feb 2016

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[Hereditary ichthyosis: A diagnostic and therapeutic challenge].
 

Author(s): Nadia Vega Almendra, Ligia Aranibar Duran

Journal: Rev Chil Pediatr. ;87(3):213-23.

 

Hereditary ichthyoses are a group of genetic disorders of cornification, which are characterised by hyperkeratosis and scaling. The new classification identifies 36 types of ichthyosis, which are subdivided according to their frequency, pattern of inheritance and extracutaneous involvement. ...

Last Updated: 19 Jun 2016

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 1 Sep 2016

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A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris
 

Status: Recruiting

Condition Summary: Ichthyosis Vulgaris

 

Last Updated: 17 Aug 2017

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A Safety and Tolerability Study of Topical PAT-001 in Congenital Ichthyosis
 

Status: Recruiting

Condition Summary: Congenital Ichthyosis

 

Last Updated: 17 Aug 2017

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