| Epidermolytic Ichthyosis (EI) | |
|---|---|
| Other names | Bullous epidermis ichthyosis |
 | |
| Specialty | Medical genetics  |
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]
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]
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ Bullous ichthyosiform erythroderma (Concept Id: C0079153) - MedGen - NCBI, retrieved 2023-08-10
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ synd/1036 at Who Named It?
- ^ a b c James, William D.; Elston, Dirk; Treat, James R.; Rosenbach, Misha A.; Neuhaus, Isaac (2020). "27. Genodermatoses and congenital anomalies". Andrews' Diseases of the Skin: Clinical Dermatology (13th ed.). Edinburgh: Elsevier. pp. 563–565. ISBN 978-0-323-54753-6.
- ^ a b c d e f g Rice, Ashley S.; Crane, Jonathan S. (2023). "Epidermolytic Hyperkeratosis". StatPearls. StatPearls Publishing. PMID 31335043.
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