Epidermolytic ichthyosis (EI),[lower-alpha 1] 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]
Quick Facts Other names, Specialty ...
Close
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]
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]
- Keratin 1 is associated with the variants affecting the palms and soles.[6]
- Keratin 10 is associated with the variants in which these are unaffected.[6]
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 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]
The condition is rare, affecting around 1 in 200,000 to 300,000 babies.[6]
EI was first classified by its presence or absence in the palms and soles by DiGiovanna and Bale in 1994.[6][8]
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]
Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1. Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.