Harlequin Ichthyosis, a rare genetic skin disorder, is a terrifying condition that affects newborns from birth. It is estimated to occur in about 1 in every 300,000 to 500,000 babies in the United States. This condition is characterized by thick, diamond-shaped scales that cover the entire body, causing severe dehydration, infections, and even death in some cases.
It is caused by a genetic variant in the ABCA12 gene, which is responsible for producing a vital protein for healthy skin cells. This genetic mutation leads to abnormally small amounts of the ABCA12 protein or none at all, disrupting the normal development of the epidermis and causing severe symptoms. The condition is inherited in an autosomal recessive manner, meaning both parents are carriers of the mutated gene but typically don't show symptoms of the condition.
The thick, platelike scales of skin that cover the body can restrict movement, limit breathing and eating, and cause dehydration and life-threatening infections. The tightness of the skin around the eyes and mouth can also cause the eyelids and lips to turn inside out, making it difficult for the baby to close their eyes or feed properly. Social and psychological difficulties may also arise due to the baby's appearance.
While there is no cure for Harlequin Ichthyosis, various treatments and management strategies are available to alleviate symptoms. These may include topical creams, frequent baths, and specialized care to maintain skin moisture. In severe cases, oral retinoids may be used to help remove the thick, platelike scales covering the skin and alleviate issues such as constricting fingers, compromised blood flow, and difficulty breathing and feeding.
Medical researchers and scientists are continually working to gain a deeper understanding of Harlequin Ichthyosis and identify new treatment approaches and potential therapies to improve the quality of life for those affected by this condition. Genetic therapies hold great promise for the future, with the potential to correct the genetic mutations responsible for Harlequin Ichthyosis.
REFERENCES:
Maria Tsivilika, Dimitrios Kavvadas, Sofia Karachrysafi, Antonia Sioga, and Theodora Papamitsou.Management of Harlequin Ichthyosis: A Brief Review of the Recent Literature.10.3390/children9060893
https://www.bldgactive.com/blog-digging-into-the-causes-of-harlequin-ichthyosis/
https://www.webmd.com/children/what-is-harlequin-ichthyosis
IMAGE CREDITS:
https://en.m.wikipedia.org/wiki/Harlequin-type_ichthyosis
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