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ichthyosis bullosa of Siemens

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI) characterized by the presence of superficial blisters and erosions at birth.
Uniprot Description A rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0007813:  ichthyosis bullosa of Siemens
GARD:0002966: 
MESH:D053560: 
NCIT:C84777: 
Orphanet:455: 
SCTID:254169002: 
UMLS:C0432306: