Epidermolytic hyperkeratosis

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Epidermolytic Ichthyosis (EI)
Other namesBullous epidermis ichthyosis
SpecialtyMedical genetics Edit this on Wikidata

Epidermolytic ichthyosis (EI),

absence of sweat.[6] Symptoms vary in severity and extent of skin involvement.[5] The two main types are divided into one involving palms and soles and the other without.[6]

EI is caused by a genetic mutation.[6] The condition involves the clumping of keratin filaments.[5][6]

The condition is rare, affecting around 1 in 200,000 to 300,000 babies.[6]

Signs and symptoms

EI is a severe form of

absence of sweat.[6] Symptoms vary in severity and extent of skin involvement.[5] Complications include infection and joint problems.[6] Affected newborns are particularly at risk of dehydration, sepsis, and electrolyte imbalance.[6]

Cause and mechanism

The condition is mostly inherited in an

autosomal dominant pattern.[6] To a lesser extent, a recessive form exists.[5] It is caused by genetic mutations in the genes encoding the proteins keratin 1 or keratin 10, resulting in disruption of the structure of the epidermis.[6]

Diagnosis

Diagnosis is by its appearance, skin biopsy, and genetic testing.[6]

The condition can be diagnosed via exam that reveals; generalized redness; thick, generally dark, scales that tend to form parallel rows of spines or ridges, especially near large joints; the skin is fragile and blisters easily following trauma; extent of blistering and amount of scale is variable.[citation needed]

Treatment

Treatment includes applying thick

moisturisers.[5] Other therapies include topical and oral retinoids.[5] These include topical N-acetylcysteine, liarozole, and calcipotriol.[6] Bacterial colonisation of skin may be reduced by use of antibacterial soaps, chlorhexidine, and dilute sodium hypochlorite baths.[6]

Research

Gene therapy is being studied for EI.[7]

Epidemiology

The condition is rare, affecting around 1 in 200,000 to 300,000 babies.[6]

History

EI was first classified by its presence or absence in the palms and soles by DiGiovanna and Bale in 1994.[6][8]

See also

Notes

  1. ^ also known as bullous epidermis ichthyosis (BEI), epidermolytic hyperkeratosis (EHK), bullous congenital ichthyosiform erythroderma (BCIE),[1] bullous ichtyosiform erythroderma congenita,[2] bullous ichthyosiform erythroderma[3]: 482  or bullous congenital ichthyosiform erythroderma Brocq,[4]

References

  1. ISBN 978-1-4160-2999-1
    .
  2. ^ Bullous ichthyosiform erythroderma (Concept Id: C0079153) - MedGen - NCBI, retrieved 2023-08-10
  3. ISBN 0-07-138076-0
    .
  4. Who Named It?
  5. ^
    ISBN 978-0-323-54753-6
    .
  6. ^
    PMID 31335043
    .
  7. PMID 35840979
    .
  8. PMID 8053700
    .

External links
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