Epidermolytic hyperkeratosis
Medical condition From Wikipedia, the free encyclopedia
Epidermolytic ichthyosis (EI),[a] is a severe form of dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby.[5][6] Hyperkeratosis typically develops several months later.[6] Other symptoms include itch, painful fissures, strong body odor, and 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]
| Epidermolytic Ichthyosis (EI) | |
|---|---|
| Other names | Bullous epidermis ichthyosis |
| |
| Specialty | Medical genetics |
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 dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby.[5][6] Hyperkeratosis typically develops several months later.[6] Other symptoms include itch, painful fissures, body odor, and 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
References
External links
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