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What Is Ichthyosis? Know More About The Rare Condition

By Varsha Pappachan

Genetic disorders related to various body organs is a common thing nowadays. The severity or type of disorders is varied.

For instance, few of the major genetic skin-related disorders are Darier-White disease, Epidermolysis bullosa (EB), lamellar ichthyosis, cutaneous porphyria and Mal de Maleda. Through this article, let us understand the cause, symptoms, diagnosis & treatment related to one of the rare skin disorders called Ichthyosis.

What Exactly Is Ichthyosis?

It is a rare genetic skin problem which is found worldwide among people of any gender, age, place, geography or race. Its distinctive features include accumulated dead skin cells in dry and thick scales that form on the skin's surface.

These scales may sometimes be referred to as 'fish scales'. The name Ichthyosis is derived from the Greek word: Ichthys, that means 'fish'. The severity of around 20 types of Ichthyosis may vary from mild to extreme, which is primarily decided according to the symptoms. [1]

Among all these types, the most common one is ichthyosis vulgaris, which is found in around 1 in 250-300 people, and is characterized by dry and scaly appearance of the skin. Out of the total cases reported, the percentage of ichthyosis vulgaris may be more than 90-95%. [2]

The most rare and severe type of ichthyosis is the harlequin type ichthyosis. It could affect most parts of the body from the time of birth, and until the infant grows up. The eyelids, ears, mouth, nose, arms and legs majorly get affected resulting in more problems on a day-to-day basis. [3]

How Is Ichthyosis Caused?

Commonly inherited by one or both parents, Ichthyosis is mainly a genetic disorder that is caused by the inheritance of a defective flawed gene. The milder type occurs usually when the inheritance occurs from one of the parents, and it can be more severe in case two defective genes are inherited from each parent. [4]

Another reason, though uncommon, is the acquiring of Ichthyosis due to certain other factors. Diseases related to the thyroid, HIV/AIDS, cancer, autoimmune problems, etc., or drug allergies, infection, and so on.

What Are The Symptoms Of Ichthyosis?

The Ichthyosis is capable of slowing down the natural regeneration process of the skin. As a result of this, the old cells do not shed properly and end up getting accumulated, thereby creating a thick layer on the skin which is dry and scaly.

The appearance may be tiled, flaky, brown, red, white or even grey in colour, and possibly with deep cracks in the skin that may be extremely painful. The symptoms may vary for each patient. The common thing is, the Ichthyosis tends to worsen during dry winters and get better or even cured during humid and warm summers. [5]

How Does The Doctor Diagnose Ichthyosis?

The first and foremost diagnosis is simple - just by observing the skin! Additionally, to confirm the cause of the symptoms due to Ichthyosis, a biopsy could be done on the skin. Furthermore, it is good to know the exact details about the family history, just in case Ichthyosis was or has been prevalent in the family.

It is advisable to immediately consult the physician or dermatologist as soon as the symptoms show up, so that they could properly diagnose the disease and prescribe the appropriate medication or treatment. [1]

Treatment Of Ichthyosis

Generally, the Ichthyosis may be treated by the medically prescribed tropical application of oil or cream that helps in hydrating the skin sufficiently. Some of the medications consist of lactic acid, and are an extremely good way to improve or cure the dry scaly skin. Propylene Glycol and Retinoids are also effective options. [6]

Precautions To Be Taken By Patients Of Ichthyosis

Apart from seeking the relevant medical advice, it is important for the patients of Ichthyosis to take certain precautions. For example, the skin needs to be hydrated properly using the apt cream, oil, natural pack, etc., that enhance the moisture in the skin. However, this may entirely depend on the severity and doctor's prescription.

Secondly, it is most important to stay away from the sun. Due to the damaging effects of the heat produced by the sun, the condition of the dry and scaly skin could worsen by making it turn drier, flaky or many a times bleed. [7]

Are Only Humans Affected By Ichthyosis?

Not really. Skin disorders such as Ichthyosis can happen even to animals such as dogs, mice, cattle, chicken, etc. Many domestic dogs have been commonly diagnosed with Ichthyosis in varied levels of severity and the most commonly affected breeds have been Cairn Terriers, Golden Retrievers, Americal Bulldogs, etc. [8]

A Final Note - Ichthyosis

Ichthyosis may be referred to as a recurrent skin disorder, which may or may not be caused by genetic reasons. It could occur in humans or animals right from the time of birth, and could continue for a long time and worsen further, if undiagnosed. The correct and timely medical intervention and guidance, as per the extremity of the ailment is the most advisable thing to do. Ichthyosis is a rare skin disorder; however, it could happen to anyone and anywhere. Therefore, it is good to be aware about it!

View Article References
  1. [1] DiGiovanna, J. J., & Robinson-Bostom, L. (2003). Ichthyosis. American journal of clinical dermatology, 4(2), 81-95.
  2. [2] Thyssen, J. P., Godoy‐Gijon, E., & Elias, P. M. (2013). Ichthyosis vulgaris: the filaggrin mutation disease. British journal of dermatology, 168(6), 1155-1166.
  3. [3] Shruthi, B., Nilgar, B. R., Dalal, A., & Limbani, N. (2017). Harlequin ichthyosis: A rare case. Turkish journal of obstetrics and gynecology, 14(2), 138.
  4. [4] Marukian, N. V., & Choate, K. A. (2016). Recent advances in understanding ichthyosis pathogenesis. F1000Research, 5.
  5. [5] Oji, V., & Traupe, H. (2009). Ichthyosis. American journal of clinical dermatology, 10(6), 351-364.
  6. [6] Lai‐Cheong, J. E., Elias, P. M., & Paller, A. S. (2013). Pathogenesis‐based therapies in ichthyoses. Dermatologic therapy, 26(1), 46-54.
  7. [7] Frascari, F., Dreyfus, I., Rodriguez, L., Gennero, I., Ezzedine, K., Salles, J. P., & Mazereeuw-Hautier, J. (2014). Prevalence and risk factors of vitamin D deficiency in inherited ichthyosis: a French prospective observational study performed in a reference center. Orphanet journal of rare diseases, 9(1), 127.
  8. [8] Mauldin, E. A., Credille, K. M., Dunstan, R. W., & Casal, M. L. (2008). The clinical and morphologic features of nonepidermolytic ichthyosis in the golden retriever. Veterinary pathology, 45(2), 174-180.
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