The expanding spectrum of clinical phenotypes associated with PSTPIP1 mutations: from PAPA to PAMI syndrome and beyond.

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 and Borradori, Luca

Subjects:

600 Technology > 610 Medicine & health

ISSN:

0007-0963

Publisher:

Wiley-Blackwell

Language:

English

Submitter:

Sandra Nyffenegger

Date Deposited:

19 Feb 2018 16:20

Last Modified:

20 Apr 2018 01:31

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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