The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family

The Proteolytic Network in Palmoplantar Keratoderma: SERPINA12 Joins the Family

Mohamad et al. (2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including erythema, peeling, and exacerbation on water exposure....

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Veröffentlicht in:Journal of investigative dermatology 2020-11, Vol.140 (11), p.2111-2113
Hauptverfasser: Steele, Lloyd, Tawfik, Soha S., O’Toole, Edel A.
Format: Artikel
Sprache:eng
Schlagworte:
Epidermis
Humans
Keratoderma, Palmoplantar - genetics
Mutation
Peptide Hydrolases - genetics
Proteolysis
Serpins - genetics
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Zusammenfassung:Mohamad et al. (2020) describe loss-of-function mutations in SERPINA12 as a cause of diffuse, transgradient palmoplantar keratoderma (PPK). This disorder shares similar clinical features with other PPKs caused by protease overactivity, including erythema, peeling, and exacerbation on water exposure. Understanding this disorder may shed further light on the role of proteases and their inhibitors in epidermal physiology.
ISSN:0022-202X
1523-1747
DOI:10.1016/j.jid.2020.06.031