Lamellar Ichthyosis is a rare skin condition that is characterized by the abnormal scaling of the skin. This occurs when the skin cells are normally produced but do not shed as they are supposed resulting in the formation of the scale. This disorder is estimated to affect 1 in 100,000 individuals in the United States although it appears to be more prevalent in Norway.
Causes
Several genetic mutations are identified to cause Lamellar Ichthyosis. These genes are responsible for the production of the protein that is present in the outer layer of the skin known as the epidermis. However, 90% of the cases of Lamellar Ichthyosis are the result of the mutation in the gene TGM1. This gene is responsible for the production of an enzyme known as transglutaminase 1 which is essential for the formation of the structure that envelops the skin cells acting as the barrier against harmful elements in the environment. The genetic mutation affects the normal production of the enzyme which prevents the development of this skin envelope. In some of the cases, the cause of this disorder may not be identified. The inheritance appears to be in an autosomal recessive manner where both the copies of the gene in each cell are defective. The parents of the individuals affected with this disorder may each carry one copy of the defective gene but do not necessarily show any symptoms associated with this condition.
Symptoms
This condition is evident at the birth of the infant and referred to as collodion babies as they are born with a clear sheath that covers the skin known as collodion membrane. Normally, this membrane peels off after the initial few weeks of their life and that is when the skin condition becomes evident as scaly skin with eyelids that are turned outward. These affected individuals typically have problems with closing their eyes because of the skin tightness around the eyes. They may also have thickened nails, hair loss, redness of the skin, thickened skin on the palms of the hands and the feet. The newborns may also develop problems with the regulating the body temperature resulting from decreased sweating, infections and dehydration.
Diagnosis
The diagnosis of this condition is possible with the evaluation of the affected individual’s medical history, family history and by identifying the features that are characteristic of this disorder. This condition cannot be prenatally diagnosed although it may be possible in the future. The genetic testing can identify the common genetic mutation that develops this condition.
Treatment
There is no cure for this disorder and the treatment focuses on the management of the symptoms. The moisturizers make the skin feel comfortable, less dry and flaky. It is also important to prevent the prolonged exposure to the sunshine as this can overheat the body. Other types of treatment include synthetic vitamin D creams, vitamin A creams, the use of eye drops for dry eyes and medications that can decrease the level of scaling.
References
http://www.ichthyosis.org.uk/lamellar-ichthyosis/
https://ghr.nlm.nih.gov/condition/lamellar-ichthyosis#inheritance
