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RHBDF2-pEDD

Previously: Tylosis oesophageal cancer

pEDD Gene: RHBDF2 AD

Onset: Childhood

Pathway: Signalling molecules

Category Paper: pEDD Paper

RHBDF2-pEDD: focal plantar keratoderma.

Key Clinical Clues

Oral leucokeratosis, follicular accentuation, family history of oesophageal cancer, focal PPK.

Additional Cutaneous Features

Oral leucokeratosis, follicular accentuation, focal PPK

Additional Extracutaneous Features

Family history of oesophageal cancer

References

Blaydon DC, Etheridge SL, Risk JM et al. RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet 2012; 90:340-6.

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