Congenital ichthyosis digital illustration

Congenital ichthyosis Save


ICD-10 code: Q80

Chapter: Congenital malformations, deformations and chromosomal abnormalities

Congenital Ichthyosis: Symptoms, Causes, and Treatment

Congenital ichthyosis is a rare genetic disorder that affects the skin. It is characterized by dry, scaly skin that can be thick or thin, depending on the severity of the condition. The condition is present from birth and can affect a person's quality of life.

  1. Symptoms
  2. The symptoms of congenital ichthyosis can vary depending on the severity of the condition. Some of the common symptoms include:

    • Dry, scaly skin
    • Thickened or thin skin
    • Cracked skin
    • Itching and redness
    • Bad body odor
  3. Causes
  4. Congenital ichthyosis is caused by mutations in one of several genes that are involved in the development of the skin. These mutations can affect the way the skin cells grow and mature, leading to the characteristic symptoms of the condition. The condition is inherited in an autosomal recessive manner, meaning that a child must inherit two copies of the mutated gene (one from each parent) to develop the condition.

  5. Treatment
  6. There is no cure for congenital ichthyosis. However, treatment can help manage the symptoms and improve a person's quality of life. Treatment options may include:

    • Moisturizers and emollients to hydrate the skin
    • Corticosteroid creams to reduce inflammation
    • Topical retinoids to help the skin shed more easily
    • Antibiotics to treat skin infections
    • Oral medications to reduce itching

Congenital ichthyosis can be a challenging condition to manage, but with proper treatment and care, people with the condition can lead full and healthy lives.