Epidermolytic hyperkeratosis

Epidermolytic Ichthyosis (EI)
Other namesBullous epidermis ichthyosis
SpecialtyMedical genetics Edit this on Wikidata

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

Notes

  1. ^ 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]

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. ^ 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.
  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.
  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.

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