Autosomal dominant epidermolytic ichthyosis
Synonyms: BCIE | Bullous congenital ichthyosiform erythroderma | Bullous congenital ichthyosiform erythroderma of Brock | Bullous ichthyosis | EHK | EI | Epidermolytic hyperkeratosis | Ichthyosis hystrix Brocq type
A rare keratinopathic ichthyosis (KPI) characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.
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 December 2023
Newly diagnosed with
Autosomal dominant epidermolytic ichthyosis?
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Center For Ichthyosis RElated Members Foundation India
To preserve and protect the health of and to relieve persons affected by ichthyosis and any associated condition. For basic knowledge of medical professionals and the general public on the subject of ichthyosis and its implications for the family. To promote research into the management of ichthyosis and to publish the useful results thereof, and to support organizations promoting research
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.