title: Familial Mediterranean fever patients with hidradenitis suppurativa.
abstract: 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.
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Dermatology and Venereology, Ankara University, Ankara, Turkey.|Department of Dermatology and Allergology, Ludwig-Maximilians University, Munich, Germany.
authors.forename: Secil
authors.initials: S
authors.lastname: Vural
authors.affiliation: Department of Dermatology and Venereology, Ankara University, Ankara, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Gundogdu
authors.affiliation: Department of Dermatology and Venereology, Ankara University, Ankara, Turkey.
authors.forename: Nihal
authors.initials: N
authors.lastname: Kundakci
authors.affiliation: Department of Dermatology and Allergology, Ludwig-Maximilians University, Munich, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Ruzicka
mesh_terms: D000069316:Acne Conglobata / Q000150:complications / Q000235:genetics; D000328:Adult; D010505:Familial Mediterranean Fever / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D017497:Hidradenitis Suppurativa / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017511:Pyoderma Gangrenosum / Q000150:complications / Q000235:genetics; D000071198:Pyrin / Q000235:genetics*; D013167:Spondylitis, Ankylosing / Q000150:complications / Q000235:genetics
chemical_list: C000604192:MEFV protein, human; D000071198:Pyrin