| Epidermolytic Ichthyosis (EI) | |
| Synonyms: | Bullous epidermis ichthyosis |
Epidermolytic ichthyosis (EI), is a severe form of dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby.[1] [2] Hyperkeratosis typically develops several months later.[2] Other symptoms include itch, painful fissures, strong body odor, and absence of sweat.[2] Symptoms vary in severity and extent of skin involvement.[1] The two main types are divided into one involving palms and soles and the other without.[2]
EI is caused by a genetic mutation.[2] The condition involves the clumping of keratin filaments.[1] [2]
The condition is rare, affecting around 1 in 200,000 to 300,000 babies.[2]
EI is a severe form of dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby.[1] [3] Hyperkeratosis typically develops several months later.[2] Other symptoms include itch, painful fissures, body odor, and absence of sweat.[2] Symptoms vary in severity and extent of skin involvement.[1] Complications include infection and joint problems.[2] Affected newborns are particularly at risk of dehydration, sepsis, and electrolyte imbalance.[2]
The condition is mostly inherited in an autosomal dominant pattern.[2] To a lesser extent, a recessive form exists.[1] 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.[2]
Diagnosis is by its appearance, skin biopsy, and genetic testing.[2]
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.
Treatment includes applying thick moisturisers.[1] Other therapies include topical and oral retinoids.[1] These include topical N-acetylcysteine, liarozole, and calcipotriol.[2] Bacterial colonisation of skin may be reduced by use of antibacterial soaps, chlorhexidine, and dilute sodium hypochlorite baths.[2]
Gene therapy is being studied for EI.[4]
The condition is rare, affecting around 1 in 200,000 to 300,000 babies.[2]
EI was first classified by its presence or absence in the palms and soles by DiGiovanna and Bale in 1994.[2] [5]