A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.

M PavlovskyO SarigM Eskin-SchwartzN MalchinR BochnerJ MohamadA GatA PeledA HafnerEli Sprecher

Published in: The British journal of dermatology (2017)

The present data confirm the genetic basis of the combined DDD-HS phenotype and suggest that Notch signalling may play a central role in the pathogenesis of this rare condition.

Keyphrases

hidradenitis suppurativa
electronic health record
cell proliferation
genome wide
copy number
gene expression
machine learning
dna methylation