bullous congenital ichthyosiform erythroderma (DOID:0060877)
Alliance: disease page
Synonyms: bullous type ichthyosis; ichthyosis bullosa of Siemens; superficial epidermolytic ichthyosis
Alt IDs: OMIM:146800, MESH:D053560, NCI:C84777, ORDO:455, UMLS_CUI:C0432306
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.