autosomal recessive congenital ichthyosis exfoliative ichthyosis autosomal recessive exfoliative ichthyosis MONDO:0017339 GARD:0017329 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. UMLS:C1838440 MEDGEN:325027 ichthyosis exfoliativa Orphanet:289586 exfoliative ichthyosis