| Epidermolytic Ichthyosis (EI) | |
|---|---|
| Other names | Bullous epidermis ichthyosis |
 | |
| Specialty |
Medical genetics
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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]
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]
- 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
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
- Ichthyosis bullosa of Siemens
- Isotretinoin (Accutane)
- List of cutaneous conditions
- List of cutaneous conditions caused by mutations in keratins
- List of verrucous carcinoma subtypes
- Nonbullous ichthyosiform erythroderma
Notes
References
- ^ 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 d e f g h 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 h i j k l m n o p q r s t u Rice, Ashley S.; Crane, Jonathan S. (2023). "Epidermolytic Hyperkeratosis". StatPearls. StatPearls Publishing. PMID 31335043.
- ^ Joosten, M. D. W.; Clabbers, J. M. K.; Jonca, N.; Mazereeuw-Hautier, J.; Gostyński, A. H. (15 July 2022). "New developments in the molecular treatment of ichthyosis: review of the literature". Orphanet Journal of Rare Diseases. 17 (1): 269. doi: 10.1186/s13023-022-02430-6. ISSN 1750-1172. PMC 9287901. PMID 35840979.
- ^ DiGiovanna JJ, Bale SJ (August 1994). "Clinical heterogeneity in epidermolytic hyperkeratosis". Arch Dermatol. 130 (8): 1026–35. doi: 10.1001/archderm.130.8.1026. PMID 8053700.