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KLHL24-pEDD-EBS

Previously: Epidermolysis bullosa simplex, intermediate with cardiomyopathy

pEDD Gene: KLHL24 AD

Onset: Infancy

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Blisters and erosions, atrophic scars, dystrophic nails; beware of cardiomyopathy.

Additional Cutaneous Features

Atrophic scars with altered pigmentation

Additional Extracutaneous Features

Cardiomyopathy

References

Lin Z, Li S, Feng C et al. Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. Nat Genet 2016; 48:1508-16.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer