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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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 332 free, full-text research articles on human participants. First 3 results:

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis.
 

Author(s): Shivanand C Bubanale, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B Kurbet

Journal: Indian J Ophthalmol. 2018 06;66(6):856-858.

 

Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids. A 1-month-old female neonate, the second born of a nonconsanguineous ...

Last Updated: 31 Dec 1969

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Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin.
 

Author(s): Alessandro Terrinoni, Biagio Didona, Sabrina Caporali, Giovanni Chillemi, Alessandro Lo Surdo, Mauro Paradisi, Margherita Annichiarico-Petruzzelli, Eleonora Candi, Sergio Bernardini, Gerry Melino

Journal:

 

Ichthyosis Hystrix of Curth-Macklin (IH-CM) is a rare manifestation of epidermolytic ichthyosis (EI) that is characterised by generalised spiky or verrucous hyperkeratosis. The disorder is further distinguished by the presence of binucleated cells in the affected skin, whereas epidermolysis ...

Last Updated: 31 Dec 1969

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Do you know this syndrome? Ichthyosis associated with neurological condition and alteration of hairs.
 

Author(s): Luciana Baptista Pereira, Neusa Yuriko Sakai Valente, Vanessa Barreto Rocha

Journal: An Bras Dermatol. ;93(1):135-137.

 

Trichothiodystrophy refers to a heterogeneous group of rare genetic diseases that affects neuroectodermal-derived tissues with multisystem involvement. The hallmark of these syndromes is the deficiency of sulfur in hair matrix proteins, leading to short and brittle hair. Few cases ...

Last Updated: 31 Dec 1969

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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 21 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 04;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: 31 Dec 1969

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Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care.
 

Author(s): Jaimie B Glick, Brittany G Craiglow, Keith A Choate, Hugo Kato, Robert E Fleming, Elaine Siegfried, Sharon A Glick

Journal: Pediatrics. 2017 Jan;139(1):.

 

Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. HI is caused by mutations in the lipid transporter adenosine triphosphate binding cassette A 12 (ABCA12). Neonates are born with a distinct clinical appearance, encased in a dense, ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Ophthalmological Abnormalities in Hereditary Ichthyosis (ICHTYO-KERATO)
 

Status: Recruiting

Condition Summary: Ichthyosis

 

Last Updated: 7 Mar 2018

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Last Updated: 5 Jan 2018

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A Six Week Topical Cream Study for Subjects With Ichthyosis Vulgaris
 

Status: Recruiting

Condition Summary: Ichthyosis Vulgaris

 

Last Updated: 17 Jul 2018

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