Familial Mediterranean fever patients with hidradenitis suppurativa

Hidradenitis suppurativa Research


Author(s): Vural S, Gundogdu M, Kundakci N, Ruzicka T

BACKGROUND: Hidradenitis suppurativa (HS) has recently been described as a component of two autoinflammatory syndromes: PASH (pyoderma gangrenosum, acne, and HS) and PAPASH (pyoderma gangrenosum, acne, pyogenic arthritis, and HS). These associations together with others such as inflammatory bowel diseases suggest that defects in autoinflammatory pathways may play a role in the pathogenesis of HS.

OBJECTIVES: To describe clinical and genetic characteristics of two unrelated patients with HS and familial Mediterranean fever (FMF).

METHODS: Case study.

RESULTS: Besides FMF and HS, the first patient had acne conglobata, and the second patient had pyoderma gangrenosum and ankylosing spondyloarthropathy. Both patients had M694V/V726A MEFV gene mutations.

CONCLUSION: PASH and PAPASH have recently been associated with genetic alterations of gene encoding proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1), which interacts with the product of MEFV gene in the autoinflammatory pathway. This intriguing molecular interaction may explain shared phenotypic characteristics seen in genetic defects. Association of one more autoinflammatory disorders with HS adds another brick to the wall.


Dermatology Journal and/or Publisher

Journal Name: International journal of dermatology
Journal Abbreviation: Int. J. Dermatol.
Journal Date Published:


National Center for Biotechnology Information

PMID: 28194777
Article Source: http://www.ncbi.nlm.nih.gov/pubmed/28194777
Lasted Revision: 2018-03-13


Abstract Source: National Center for Biotechnology Information, U.S. National Library of Medicine Abstract Query for Hidradenitis suppurativa (HS).


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