Misplaced Pages

Epidermolytic Ichthyosis (EI)
Other names	Bullous epidermis ichthyosis
Specialty	Medical genetics

Epidermolytic ichthyosis (EI), is a severe form of dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby. Hyperkeratosis typically develops several months later. Other symptoms include itch, painful fissures, strong body odor, and absence of sweat. Symptoms vary in severity and extent of skin involvement. The two main types are divided into one involving palms and soles and the other without.

EI is caused by a genetic mutation. The condition involves the clumping of keratin filaments.

The condition is rare, affecting around 1 in 200,000 to 300,000 babies.

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. Hyperkeratosis typically develops several months later. Other symptoms include itch, painful fissures, body odor, and absence of sweat. Symptoms vary in severity and extent of skin involvement. Complications include infection and joint problems. Affected newborns are particularly at risk of dehydration, sepsis, and electrolyte imbalance.

Cause and mechanism

The condition is mostly inherited in an autosomal dominant pattern. To a lesser extent, a recessive form exists. 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.

• Keratin 1 is associated with the variants affecting the palms and soles.
• Keratin 10 is associated with the variants in which these are unaffected.

Diagnosis

Diagnosis is by its appearance, skin biopsy, and genetic testing.

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

Treatment includes applying thick moisturisers. Other therapies include topical and oral retinoids. These include topical N-acetylcysteine, liarozole, and calcipotriol. Bacterial colonisation of skin may be reduced by use of antibacterial soaps, chlorhexidine, and dilute sodium hypochlorite baths.

Research

Gene therapy is being studied for EI.

Epidemiology

The condition is rare, affecting around 1 in 200,000 to 300,000 babies.

History

EI was first classified by its presence or absence in the palms and soles by DiGiovanna and Bale in 1994.

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

1. also known as bullous epidermis ichthyosis (BEI), epidermolytic hyperkeratosis (EHK), bullous congenital ichthyosiform erythroderma (BCIE), bullous ichtyosiform erythroderma congenita, bullous ichthyosiform erythroderma or bullous congenital ichthyosiform erythroderma Brocq,

References

1. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. Bullous ichthyosiform erythroderma (Concept Id: C0079153) - MedGen - NCBI, retrieved 2023-08-10
3. Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
4. synd/1036 at Who Named It?
5. ^ 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.
6. ^ Rice, Ashley S.; Crane, Jonathan S. (2023). "Epidermolytic Hyperkeratosis". StatPearls. StatPearls Publishing. PMID 31335043.
7. 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.
8. 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.

External links

• Genodermatoses
• Rare diseases
• Cytoskeletal defects