# Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases

## TL;DR

This paper reviews how protease dysregulation contributes to rare skin diseases and explores potential treatments.

## Contribution

The paper provides insights into protease-related mechanisms in monogenic skin diseases and highlights emerging therapeutic approaches.

## Key findings

- Protease and protease inhibitor dysregulation is linked to monogenic skin diseases.
- Disease gene discoveries have enhanced understanding of skin homeostasis and barrier function.
- Emerging therapies target protease-related mechanisms in these diseases.

## Abstract

Proteases are essential enzymes that, through the breakdown of proteins, regulate many aspects of tissue homeostasis including barrier function, cellular signaling, and tissue repair mechanisms in organisms. Disease gene discovery in a number of monogenic skin diseases has deepened the knowledge of how proteases and protease inhibitors can regulate skin homeostasis, keratinocyte desmosome-mediated cell adhesion, and epidermal barrier function. This short review details the association of protease dysregulation with monogenic skin diseases, postulated disease mechanisms, and emerging therapeutic strategies.