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Definition

A genodermatosis characterized by congenital exfoliative ichthyosis, sharing some features with ichthyosis bullosa of Siemens and annular epidermolytic ichthyosis. PSS4 presents shortly after birth as dry, scaly skin over most of the body with coarse peeling of non-erythematous skin on the palms and soles, which is exacerbated by excessive moisture and minor trauma. Electron microscopy analysis of skin biopsies, reveals mostly normal-appearing upper layers of the epidermis, but prominent intercellular edema of the basal and suprabasal cell layers with aggregates of tonofilaments in the basal keratinocytes.

Acronym

PSS4

Synonyms

AREI
Exfoliative ichthyosis, autosomal recessive
Exfoliative ichthyosis autosomal recessive IBS-like
Ichthyosis, exfoliative, autosomal recessive, ichthyosis bullosa of Siemens-like

Keywords

Ichthyosis

 
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