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DSP-pEDD-arrhythmogenic cardiomyopathy

Previously: Carvajal syndrome

pEDD Gene: DSP AD/AR

Onset: Infancy

Pathway: Structural Proteins

Category Paper: pEDD Paper

Key Clinical Clues

Woolly hair, striate keratoderma, LV arrhythmogenic cardiomyopathy.

Additional Cutaneous Features

Woolly hair, striate keratoderma

Additional Extracutaneous Features

LV arrhythmogenic cardiomyopathy, abnormal dentition

References

Norgett EE, Hatsell SJ, Carvajal-Huerta L et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000; 9:2761-6.

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