About ichthyosis congenita

What is ichthyosis congenita?

Lamellar ichthyosis is a rare genetic skin disorder. In lamellar ichthyosis, the skin cells are produced at a normal rate, but they do not separate normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickly as they should be. The result of this retention is the formation of scale.

What are the symptoms for ichthyosis congenita?

Cracking of the skin symptom was found in the ichthyosis congenita condition

Ichthyosis vulgaris is characterized by Dry skin with small scales in a color range from white to dirty gray or brown.

Ichthyosis vulgaris slows your skin's natural shedding process. This causes chronic, excessive buildup of the protein in the upper layer of the skin (keratin). Symptoms include:

  • Dry, scaly skin
  • Tile-like, small scales
  • White, gray or brown scales, depending on skin color
  • Flaky scalp
  • Deep, painful cracks in your skin

The scales usually appear on your elbows and lower legs and may be especially thick and dark over your shins. Most cases of ichthyosis vulgaris are mild, but some can be severe. The severity of symptoms may vary widely among family members who have the condition.

Symptoms usually worsen or are more pronounced in cold, dry environments and tend to improve or even resolve in warm, humid environments.

What are the causes for ichthyosis congenita?

Ichthyosis vulgaris is commonly caused by a genetic mutation that's inherited from one or both parents. Children who inherit a defective gene from just one parent have a milder form of the disease. Those who inherit two defective genes have a more severe form of ichthyosis vulgaris. Children with the inherited form of the disorder usually have normal skin at birth, but develop scaling and roughness during the first few years of life.

If genetic abnormalities aren't responsible for ichthyosis, it's referred to as acquired ichthyosis. It's usually associated with other diseases, such as cancer, thyroid disease or HIV/AIDS.

What are the treatments for ichthyosis congenita?

Ichthyosis vulgaris doesn't have a known cure, so the goal of treatment is to manage the condition.


Treatments may include:

  • Exfoliating creams and ointments. Prescription creams and ointments containing alpha hydroxy acids, such as lactic acid and glycolic acid, help control scaling and increase skin moisture.
  • Oral medication. Your doctor may prescribe vitamin A-derived medications called retinoids to reduce the production of skin cells. Side effects from the medication may include eye and lip inflammation, bone spurs and hair loss.

    Retinoids may cause birth defects. Women considering retinoid therapy should be sure they are not pregnant before starting the medication — and use effective birth control while taking retinoids.

What are the risk factors for ichthyosis congenita?

Ichthyosis Congenita is a type of genetic skin disorder that is very rare. It is also known as Harlequin ichthyosis or Keratosis Diffusa Foetalis. It happens to be in 1 person out of 3,00,000 births worldwide.

  • This condition occurs in the child if either of the parents has this. If both the genes are defective, then the chances of birth of a child with ichthyosis congenita are in very severe form.
  • There appears to be dry skin that has small scales of white, grey, or brown color.
  • Your normal skin cannot be naturally visible or not shine due to this disorder. There forms extra protein in keratin.
  • The scalp appears to be flaky. Your skin might hurt due to deeper cracks. The cases of this disorder may be mild to severe.
  • Scales can occur on your elbows or lower legs. This is totally genetic, so the risk factors mainly depend on the condition of family members suffering from this disorder. This happens to be severe in cold and very dry atmospheres and can become mild in warm temperatures.
  • If the child is having ichthyosis congenita, then the skin of the child by birth appears to be normal, but after a few years, it will start appearing scaly and rough.
  • More often, genetic abnormalities are a possible cause of concern for ichthyosis congenita but if this is not responsible, then it can be referred as acquired ichthyosis. It can occur due to other diseases like thyroid, cancer, and HIV/AIDS.

Dry skin,Itching,Redness of the skin,Cracking of the skin,Scales on the skin that are white, gray, or brown
Dry, itchy skin that appears scaly, rough, and red
Retinoid can decrease scaling,Prescription creams or ointments,Keratolytic topical agents

Is there a cure/medications for ichthyosis congenita?

There is no cure for Ichthyosis Congenita. The condition can be treated with certain medications. Primarily, skin can be moisturized, reduces loss of fluids, and further infections are controlled and prevented. Patients are treated through acitretin. It is an oral retinoid.

Further, ichthyosis congenita can be treated as follows-

  • For controlling and improving skin scaling, exfoliating creams and ointments are prescribed. These creams and ointments contain alpha hydroxy acids, i.e., lactic acid and glycolic acid. This can help in moisturizing the skin.
  • Various oral medications are also prescribed by the doctor, such as Vitamin A, i.e., retinoids, for reducing the production of cells in the skin. Side effects from such medication can also arise, such as hair loss, eye and lip inflammation, and bone spurs. Also, having retinoids may be dangerous for pregnant women.
  • Body temperature is to be maintained properly with the help of a humidified incubator.
  • Electrolyte balance is to be maintained.
  • There must be a proper amount of calorie intake.
  • Care of the eyes is taken by artificial tear drops.
  • Special care is taken to prevent the development of contractures in the distal phalanges because it may cause necrosis and gangrene.
  • Any infections need to be monitored.
  • Daily bathing is recommended to the patient to reduce the scales of creams applied.
  • For moisturizers, sodium chloride, urea, vitamin E acetate, glycerol, and petroleum can be used.
  • Treatments may take many years in some cases. Rapid use of retinoids may induce teratogenic and toxic effects in the bone tissue. In some cases, ichthyosis congenita is treated with a good response.

Dry skin,Itching,Redness of the skin,Cracking of the skin,Scales on the skin that are white, gray, or brown
Dry, itchy skin that appears scaly, rough, and red
Retinoid can decrease scaling,Prescription creams or ointments,Keratolytic topical agents

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