Autosomal recessive epidermolytic ichthyosis
A rare inherited non-syndromic ichthyosis characterized by congenital generalized erythroderma with cutaneous blistering and erosions resembling collodion presentation at birth replaced by progressive hyperkeratosis later in life without palmoplantar involvement. The ultrastructural pathology consists of sparse keratin filaments and keratin clumps that show a nearly homogeneous amorphous structure.
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 February 2024
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Autosomal recessive epidermolytic ichthyosis?
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