Synonyms: Autosomal recessive exfoliative ichthyosis | Ichthyosis exfoliativa
Exfoliative ichthyosis is an inherited non-syndromic congenital ichthyosis disorder 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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