| Metadata | |
|---|---|
| ID | DOID:0060877 |
| Name | bullous congenital ichthyosiform erythroderma |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/7524919, https://www.ncbi.nlm.nih.gov/pubmed/4247927 |
| Xrefs |
SNOMEDCT_US_2023_03_01:254169002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
bullous type ichthyosis [EXACT] ichthyosis bullosa of Siemens [EXACT] superficial epidermolytic ichthyosis [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a ichthyosis |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |