About epidermolytic hyperkeratosis

What is epidermolytic hyperkeratosis?

Epidermolytic ichthyosis (EI) specifically refers to a hereditary skin disorder that is characterized by varying degrees of blistering and subsequent reactive scaling of the skin. The underlying histopathology shows mid-epidermal splitting and hyperkeratosis, together referred to as epidermolytic hyperkeratosis (EHK). Depending on the nature of the causative mutation, the symptoms may vary from mild blistering upon friction to severe erosions or widespread warty scaling ("porcupine man"). A palmoplantar keratoderma (excessive callus formation on palms and soles) and/or hair abnormalities may be present in some forms of the disorder.

The term epidermolytic ichthyosis was agreed upon by the International Ichthyosis Consensus Group in 2009 and replaces the older, confusing labels of bullous congenital ichthyosiform erythroderma (Brocq) and epidermolytic hyperkeratosis.

A number of disorders show epidermolytic hyperkeratosis, including EI, superficial epidermolytic ichthyosis bullosa and desmosomal disorders such as McGrath ectodermal dysplasia-skin fragility syndrome. Much confusion has resulted from use of the term EHK to refer to the disorder now known as epidermolytic ichthyosis.



What are the causes for epidermolytic hyperkeratosis?

Mutations in the KRT1 or KRT10 genes are responsible for epidermolytic hyperkeratosis. These genes provide instructions for making proteins called keratin 1 and keratin 10, which are found in cells called keratinocytes in the outer layer of the skin (the epidermis). The tough, fibrous keratin proteins attach to each other and form fibers called intermediate filaments, which form networks and provide strength and resiliency to the epidermis.

Mutations in the KRT1 or KRT10 genes lead to changes in the keratin proteins, preventing them from forming strong, stable intermediate filament networks within cells. Without a strong network, keratinocytes become fragile and are easily damaged, which can lead to blistering in response to friction or mild trauma. It is unclear how these mutations cause the overgrowth of epidermal cells that results in hyperkeratotic skin.

KRT1 gene mutations are associated with PS-type epidermal hyperkeratosis, and KRT10 gene mutations are usually associated with NPS-type. The keratin 1 protein is present in the keratinocytes of the skin on the palms of the hands and the soles of the feet as well as other parts of the body, so mutations in the KRT1 gene lead to skin problems in these areas. The keratin 10 protein is not found in the skin of the palms and soles, so these areas are unaffected by mutations in the KRT10 gene.



What are the treatments for epidermolytic hyperkeratosis?

An accurate diagnosis is crucial to properly inform and counsel parents about epidermolytic hyperkeratosis or epidermolytic ichthyosis (EI). Prenatal diagnosis and genetic counseling are other options.

Infection, secondary sepsis, and electrolyte imbalance are all heightened risks for newborns with epidermolytic ichthyosis who have denuded skin. The neonatal ICU should receive these infants so that it can monitor them and provide any necessary care. To prevent further injury to the skin, they should be handled gently.

Cure

  • The condition epidermolytic ichthyosis cannot be cured (EI).
  • Therapy's main objective is to lessen hyperkeratosis.
  • Topical keratolytics such lactic acid, alpha-hydroxy acid, or urea can accomplish this.
  • Additionally, topical emollients with glycerin are frequently helpful.


Treatment

  • The patient's age and presentation determine the patient's course of treatment, which is primarily symptomatic.
  • To control cutaneous superinfection, electrolyte imbalance, and dehydration, infants in intensive care should be watched closely.
  • Broad-spectrum intravenous antibiotics should be used for the treatment of sepsis.
  • To preserve the skin and repair denuded regions, topical emollients and cushioning should be applied.
  • The decrease of hyperkeratosis is the aim of therapy in both children and adults.
  • Improvement in hyperkeratosis has been seen using topical emollients and keratolytic treatments that comprise glycerin, lactic acid, urea, and a-hydroxy acids, although these substances are frequently not well tolerated due to burning and stinging.
  • Due to the possibility of developing systemic salicylism, clinicians should refrain from using topical treatments containing higher concentrations of salicylic acid.


Symptoms
Redness of the skin,Babies with red, blistering, and denuded skin at birth, as well as obvious areas of skin thickening,Palmoplantar keratoderma,Palmoplantar keratoderma
Conditions
Erythroderma,Skin infections,Skin infections,Ichthyosis hystrix
Drugs
Lactic acid,lpha-hydroxy acid,Urea,Topical emollients,Oral retinoids



What are the risk factors for epidermolytic hyperkeratosis?

Epidermolytic hyperkeratosis is an autosomal dominant genetic disorder.

  • Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease.
  • The abnormal gene can be inherited from the parent or as a result of a new mutation (gene change) in the affected individual.
  • The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy.
  • The risk is the same for males and females.
  • Some cases of EI are caused by a spontaneous mutation.
  • The severity of the disease depends on the percentage of cells affected, and it is less severe than in individuals who have the mutation in all of their cells.


Symptoms
Redness of the skin,Babies with red, blistering, and denuded skin at birth, as well as obvious areas of skin thickening,Palmoplantar keratoderma,Palmoplantar keratoderma
Conditions
Erythroderma,Skin infections,Skin infections,Ichthyosis hystrix
Drugs
Lactic acid,lpha-hydroxy acid,Urea,Topical emollients,Oral retinoids



Is there a cure/medications for epidermolytic hyperkeratosis?

To properly inform and counsel parents about Epidermolytic hyperkeratosis, an accurate diagnosis is crucial. Prenatal diagnosis and genetic counselling are other options.

  • Infection, secondary sepsis, and electrolyte imbalance are all heightened risks for newborns with epidermolytic ichthyosis who have denuded skin.
  • The neonatal ICU should receive these infants so that it can monitor them and provide any necessary care.
  • To prevent further injury to the skin, they should be handled gently.


Cure

  • The condition epidermolytic ichthyosis cannot be cured (EI).
  • Therapy's main objective is to lessen hyperkeratosis.
  • Topical keratolytics such lactic acid, alpha-hydroxy acid, or urea can accomplish this. Additionally, topical emollients with glycerin are frequently helpful.


Treatment

  • The patient's age and presentation determine the patient's course of treatment, which is primarily symptomatic.
  • To control cutaneous superinfection, electrolyte imbalance, and dehydration, infants in intensive care should be watched closely.
  • Broad-spectrum intravenous antibiotics should be used for the treatment of sepsis.
  • To preserve the skin and repair denuded regions, topical emollients and cushioning should be applied.
  • The decrease of hyperkeratosis is the aim of therapy in both children and adults.
  • Improvement in hyperkeratosis has been seen using topical emollients and keratolytic treatments that comprise glycerin, lactic acid, urea, and a-hydroxy acids, although these substances are frequently not well tolerated due to burning and stinging.
  • Due to the possibility of developing systemic salicylism, clinicians should refrain from using topical treatments containing higher concentrations of salicylic acid.


Symptoms
Redness of the skin,Babies with red, blistering, and denuded skin at birth, as well as obvious areas of skin thickening,Palmoplantar keratoderma,Palmoplantar keratoderma
Conditions
Erythroderma,Skin infections,Skin infections,Ichthyosis hystrix
Drugs
Lactic acid,lpha-hydroxy acid,Urea,Topical emollients,Oral retinoids



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