Coexistence of pachyonychia congenita and hidradenitis suppurativa: more than a coincidence.

ABSTRACT:

Background

The coexistence of pachyonychia congenita (PC) and hidradenitis suppurativa (HS) has been described in case reports. However, the pathomechanism underlying this association and its true prevalence are unknown.

Objectives

To determine the genetic defect underlying the coexistence of PC and HS in a large kindred, to delineate a pathophysiological signalling defect jointly leading to both phenotypes, and to estimate the prevalence of HS in PC.

Methods

We used direct sequencing and a NOTCH luciferase reporter assay to characterize the pathophysiological basis of the familial coexistence of HS and PC. A questionnaire was distributed to patients with PC registered with the International Pachyonychia Congenita Research Registry (IPCRR) to assess the prevalence of

SUBMITTER: Pavlovsky M 

PROVIDER: S-EPMC9796395 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature