Autosomal recessive epidermolytic ichthyosis

Get in touch with RARE Concierge.

Contact RARE Concierge

Autosomal recessive epidermolytic ichthyosis

Synonyms: AREI

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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

Newly diagnosed with
Autosomal recessive epidermolytic ichthyosis?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.