Ichthyosis lamellaris
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| Ichthyosis lamellaris Classification and external resources | |
| ICD-10 | Q80.2 |
|---|---|
| OMIM | 242300 |
| DiseasesDB | 30052 |
| eMedicine | derm/190 |
| MeSH | D017490 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Phone:617-525-6884
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Ichthyosis lammellaris, also known as (recessive) lamellar ichthyosis and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting less than 1 person in 300,000.
Presentation
Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. As the child grows, other symptoms manifest themselves, including rapid nail and hair growth. The skin can be put under tension by the scaling, possibly resulting in small ears, inflexible fingers and ectropion, the turning outwards of the eyelids or lips.
With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales.
Genetics
This condition is an autosomal recessive genetic disorder, which means the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. Carriers of a recessive gene usually do not show any signs or symptoms of the disorder.
Ichthyosis lamellaris is associated with a deficiency of the enzyme keratinocyte transglutaminase.
See also
External links
- F.I.R.S.T. - Foundation for Ichthyosis and Related Skin Types at http://www.scalyskin.org/
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
