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TRPV3-pEDD

Previously: Olmsted syndrome 1 (OLS1)

pEDD Gene: TRPV3 AD
Onset: Infancy
Pathway: Channels
Category Paper: pEDD Paper
TRPV3-pEDD: mutilating, focal, plantar calluses.

TRPV3-pEDD: mutilating, focal, plantar calluses.

Key Clinical Clues

Very painful, progressive, mutilating PPK, periorificial plaques, nail dystrophy, alopecia, erythromelalgia.

Additional Cutaneous Features

Very painful progressive, mutilating and incapacitating PPK, periorificial plaques, nail dystrophy, hair fragility and alopecia, milder but painful PPK phenotype

Additional Extracutaneous Features

Erythromelalgia

Treatment

EGFR inhibitors, e.g., Erlotinib (Greco, 2020; Zhang, 2020).

References

Lin Z, Chen Q, Lee M et al. Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. Am J Hum Genet 2012; 90:558-64. | Duchatelet S, Pruvost S, de Veer S et al. A new TRPV3 missense mutation in a patient with Olmsted syndrome and erythromelalgia. JAMA Dermatol 2014; 150:303-6.

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

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