Epidermolytic ichthyosis

rare

A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

Identifiers: MONDO:0007239
Part of: Keratinization disease Keratinopathic ichthyosis
Also known as: BCIE · bullous congenital ichthyosiform erythroderma · bullous congenital ichthyosiform erythroderma of Brock · bullous ichthyosiform erythroderma congenita · bullous ichthyosis

Subtypes

Disease	ID	Subtypes	Genes
Autosomal dominant epidermolytic ichthyosis	MONDO:0020702	4
Epidermolytic hyperkeratosis 2	MONDO:0958184	3	KRT10
Autosomal recessive epidermolytic ichthyosis	MONDO:0044742	1
Epidermolytic hyperkeratosis 1	MONDO:0700249		KRT1

Rare disease

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