Details of Disease

General Information of Disease (ID: DISH776B)

Disease Name Exfoliative ichthyosis
Synonyms autosomal recessive exfoliative ichthyosis; ichthyosis exfoliativa; exfoliative ichthyosis
Definition
Exfoliative ichthyosis is an inherited, non-syndromic, congenital ichthyosis characterized by the infancy-onset of palmoplantar peeling of the skin (aggravated by exposure to water and by occlusion) associated with dry, scaly skin over most of the body. Pruritus and hypohidrosis may also be associated. Well-demarcated areas of denuded skin appear in moist and traumatized regions and skin biopsies reveal reduced cell-cell adhesion in the basal and suprabasal layers, prominent intercellular edema, numerous aggregates of keratin filaments in basal keratinocytes, attenuated cornified cell envelopes, and epidermal barrier impairment.
Disease Hierarchy
DISVMSR6: Autosomal recessive congenital ichthyosis
DISH776B: Exfoliative ichthyosis
Disease Identifiers
MONDO ID
MONDO_0017339
UMLS CUI
C1838440
MedGen ID
325027
Orphanet ID
289586
SNOMED CT ID
763768001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CSTA OT1K68KE Supportive Autosomal recessive [1]
SERPINB8 OT5T4Y5R Supportive Autosomal recessive [2]
KRT2 OTG2EZEN Strong Altered Expression [3]
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References

1 Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion. Am J Hum Genet. 2011 Oct 7;89(4):564-71. doi: 10.1016/j.ajhg.2011.09.001. Epub 2011 Sep 22.
2 Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions. Am J Hum Genet. 2016 Aug 4;99(2):430-6. doi: 10.1016/j.ajhg.2016.06.004. Epub 2016 Jul 28.
3 Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa.J Invest Dermatol. 1994 Sep;103(3):282-5. doi: 10.1111/1523-1747.ep12394335.