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Epidermolysis bullosa and peeling skin syndrome

GC_46

Last update: 18.01.2026

Epidermolysis bullosa (EB) and related peeling skin disorders are inherited conditions characterized by skin fragility, blistering, erosions, peeling, or impaired wound healing, often following minor trauma. Disease severity ranges from localized skin involvement to severe multisystem disease with mucosal involvement, scarring, nail abnormalities, and nutritional or other systemic complications.

This panel includes genes associated with the major forms of epidermolysis bullosa simplex, junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome, peeling skin syndromes, and related inherited skin-fragility disorders.

This panel is recommended for patients with suspected inherited skin fragility, recurrent blistering, erosions, or peeling, particularly when trauma-induced blistering is a prominent clinical feature.
ATP2A2, ATP2C1, CAST, CD151, CDSN, COL17A1, COL7A1, CSTA, CTSB, DSC3, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, FLG2, GRIP1, IKBKG, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, NAXD, PKP1, PLEC, PLOD3, SERPINB8, SLC39A4, SLC39A7, TGM5, TUFT1

ClinVar P/LP variants (IDs) not covered: -

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