Lamellar ichthyosis

Common Name(s)

Lamellar ichthyosis

Lamellar ichthyosis is a rare genetic skin disorder in which the skin cells are produced at a normal rate, but they do not separate normally at the surface of the skin and are not shed as quickly as they should be; this results in the formation of scales. Lamellar ichthyosis is present at birth; many babies born with the condition are covered with a clear membrane (the collodion) and have skin that can be red or dark, tight and split. The eyelids and lips may be forced open by the tightness of the skin (which may continue into adulthood), and there may be contractures around the fingers. Other signs and symptoms may include problems with temperature regulation, water loss, secondary infections, thickened nails, and hair loss. The condition may be caused by mutations in any of several different genes and is usually inherited in an autosomal recessive manner. Treatment may include moisturizers, keratolytics, and oral synthetic retinoids (in severe cases).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Lamellar ichthyosis" returned 34 free, full-text research articles on human participants. First 3 results:

Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene.
 

Author(s): Nacim Louhichi, Ikhlass Hadjsalem, Slaheddine Marrakchi, Fatma Trabelsi, Abderrahmen Masmoudi, Hamida Turki, Faiza Fakhfakh

Journal: Mol. Biol. Rep.. 2013 Mar;40(3):2527-32.

 

Lamellar ichthyosis (LI, MIM# 242300) is a severe autosomal recessive genodermatosis present at birth in the form of collodion membrane covering the neonate. Mutations in the TGM1 gene encoding transglutaminase-1 are a major cause of LI. In this study molecular analysis of two LI ...

Last Updated: 30 Jul 2013

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Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.
 

Author(s): A Terrinoni, V Serra, A Codispoti, E Talamonti, L Bui, R Palombo, M Sette, E Campione, B Didona, M Annicchiarico-Petruzzelli, G Zambruno, G Melino, E Candi

Journal:

 

Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study, we have screened 16 patients ...

Last Updated: 25 Oct 2012

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Long-term faithful recapitulation of transglutaminase 1-deficient lamellar ichthyosis in a skin-humanized mouse model, and insights from proteomic studies.
 

Author(s): Karin Aufenvenne, Robert H Rice, Ingrid Hausser, Vinzenz Oji, Hans Christian Hennies, Marcela Del Rio, Heiko Traupe, Fernando Larcher

Journal: J. Invest. Dermatol.. 2012 Jul;132(7):1918-21.

 

Last Updated: 14 Jun 2012

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Reviews from the PubMed Database

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The terms "Lamellar ichthyosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Treatment of the Recessive Nonbullous Congenital Ichthyosis by the Epigallocatechine Cutaneous
 

Status: Not yet recruiting

Condition Summary: Lamellar Ichthyosis

 

Last Updated: 15 Oct 2010

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