Klötgen, Hans-Willhelm; Beltraminelli, Helmut; Yawalkar, Nikhil; van Gijn, M E; Holzinger, D; Borradori, Luca (2018). The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond. British journal of dermatology, 178(4), pp. 982-983. Wiley-Blackwell 10.1111/bjd.16136
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Mutations in the PSTPIP1 gene encoding proline-serine-threonine-phosphatase interactive protein 1 were first identified in an autosomal dominant syndrome called PAPA associated with pyogenic sterile arthritis, pyoderma gangrenosum (PG) and cystic acne.1,2 . We report a patient with an autoinflammatory syndrome called PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.3 A 23-year-old man had a 3-year-history of skin ulcerations. This article is protected by copyright. All rights reserved.
Item Type: |
Journal Article (Further Contribution) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Dermatology, Urology, Rheumatology, Nephrology, Osteoporosis (DURN) > Clinic of Dermatology |
UniBE Contributor: |
Klötgen, Hans-Willhelm, Beltraminelli, Helmut, Yawalkar, Nikhil, Borradori, Luca |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
0007-0963 |
Publisher: |
Wiley-Blackwell |
Language: |
English |
Submitter: |
Andrea Studer-Gauch |
Date Deposited: |
19 Feb 2018 16:20 |
Last Modified: |
05 Dec 2022 15:10 |
Publisher DOI: |
10.1111/bjd.16136 |
PubMed ID: |
29150835 |
BORIS DOI: |
10.7892/boris.110144 |
URI: |
https://boris.unibe.ch/id/eprint/110144 |
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