Congenital ichthyosis

Below you will find more information about Congenital ichthyosis from Medigest. If you believe that you are suffering from any of the symptoms of Congenital ichthyosis it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Congenital ichthyosis and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Congenital ichthyosis comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Congenital ichthyosis is primarily characterized by the deep thickening of an infant's keratin layer of the skin. Babies with this medical condition usually have massive, horny and plate-like scales with marked abnormalities of the ears, eyes, mouth, as well as appendages. This type of armor significantly limits the movement as well as compromises the protective barrier of the skin, and makes infants more susceptible to infection and metabolic abnormalities.


Prenatal diagnosis through ultrasonography is used to check the condition of the fetus. Carrier testing is also done on relatives for possible proband mutation. Chest radiography may also be conducted.


Treatment approaches include the stabilization of the patient's breathing, airway and circulation. The temperature, heart and respiratory rate should also be closely monitored. Lubricants are also applied on the skin in order to facilitate desquamation.

Symptoms and Signs

In congenital ichthyosis, the skin is severely thickened with some large and shiny plates of what is known ass hyperkeratotic scales already evident at birth. The lower eyelids of the eyes are averted and the lips display severe traction. Infant will also suffer from temperature deregulation and metabolic abnormalities.


The primary cause of congenital ichthyosis can be traced by gene mutations as well as other chromosomal abnormalities.

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