Term Name: bullous congenital ichthyosiform erythroderma
Synonyms: bullous type ichthyosis, ichthyosis bullosa of Siemens, superficial epidermolytic ichthyosis
Definition: An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13.
Ontology: Human Disease [DOID:0060877]   ( DOID:0060877 )

Relationships
is a type of: autosomal dominant disease ichthyosis