PASH syndrome: A novel MEFV mutation variant with excellent response to adalimumab in a refractory case.

Int J Dermatol

Reference Center in Rare and Difficult-to-diagnose Diseases (CERyD), Department of Internal Medicine, Hospital San Juan de Dios, La Plata, Argentina.

Published: January 2025

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Source
http://dx.doi.org/10.1111/ijd.17330DOI Listing

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Hidradenitis Suppurativa from a Multi-Omic Scope.

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  • * Genetic studies have identified issues with Notch signaling and inflammasome function in HS, while syndromic HS is linked to mutations in certain autoinflammatory syndromes like PAPA and PASH.
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Article Synopsis
  • PASH syndrome is an autoimmune condition that causes skin problems like acne and painful sores, which get worse over time.
  • A 36-year-old man had severe symptoms including skin ulcers and struggled to find effective treatments until he improved using Infliximab.
  • Treating PASH syndrome is tricky because it can be linked to other health issues, and doctors need to try different therapies to see what works best for each patient.
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Background: Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) syndrome is a rare condition characterized by clinical features of all three dermatologic conditions. The management of PASH syndrome is difficult, with no consensus on treatment guidelines. Since PASH syndrome can increase morbidity and adversely impact quality of life, better characterization of effective therapies is needed.

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