Dictionary > Epidermolytic ichthyosis

Epidermolytic ichthyosis

Definition
noun
A form of ichthyosis that is a mild generalized erythroderma at birth and possible bullae formation, and is often associated with faulty gene coding for keratin 1 or keratin 10
Supplement
Ichthyosis is a skin disorder characterized by having a dry, thick, scaly skin. Its name is derived from the Greek ichthys meaning fish. The skin is compared to the scaly outer covering of the fish. The scaly appearance of the skin is due to excessive skin keratinization or cornification. Epidermolytic ichthyosis is one of the many forms of ichthyosis.
Epidermolytic ichthyosis is a form of ichthyosis that is often due to a mutation in the genes coding for keratin 1 or keratin 10. These proteins are members of the keratin family. Mutation in one of these genes could result in the clumping of keratin filaments. Epidermolytic ichthyosis is autosomal dominant.
This condition is congenital and the affected newborn may have erythroderma and blisters on the skin. There is also a high risk of infection and dehydration. As the newborn becomes older, the blistering and the erythroderma become less severe. However, the skin thickens particularly in the flexural creases, on neck area, and on the scalp. The affected areas may become darker than the rest of the body. Bullae formation may occur.
Some individuals with this condition develop hyperkeratosis (excessive thickening) of palms and soles. This condition is referred to as PS-type. NPS-type is one in which there is no hyperkeratosis in the soles and palms. The PS-type is associated with mutated gene coding for keratin 1 whereas the NPS-type is associated with mutated gene coding for keratin 10.
Synonym(s):

  • epidermolytic hyperkeratosis
  • bullous congenital ichthyosiform erythroderma
  • bullous ichthyosiform erythroderma

See also:

  • ichthyosis


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