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Kindler syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.
Uniprot Description An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy.
Disease Ontology Description A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.
Mondo Term and Equivalent IDs
MONDO:0008260:  Kindler syndrome
GARD:0004391: 
MESH:C536321: 
Orphanet:2908: 
SCTID:238836000: