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

H. W. Klötgen; H. Beltraminelli; N. Yawalkar; M. E. van Gijn; D. Holzinger; L. Borradori

doi:10.1111/bjd.16136

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

H. W. Klötgen, H. Beltraminelli, N. Yawalkar, M. E. van Gijn, D. Holzinger, L. Borradori

Research output: Contribution to journal › Letter › Academic › peer-review

Abstract

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.

Original language	English
Pages (from-to)	982-983
Number of pages	2
Journal	British Journal of Dermatology
Volume	178
Issue number	4
Early online date	18 Nov 2017
DOIs	https://doi.org/10.1111/bjd.16136
Publication status	Published - 1 Apr 2018

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abstract = "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.",

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AU - Klötgen, H. W.

AU - Beltraminelli, H.

AU - Yawalkar, N.

AU - van Gijn, M. E.

AU - Holzinger, D.

AU - Borradori, L.

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AB - 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.

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JO - British Journal of Dermatology

JF - British Journal of Dermatology

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

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