Familial Mediterranean fever patients with hidradenitis suppurativa.
Int J Dermatol
; 56(6): 660-663, 2017 Jun.
Article
em En
| MEDLINE
| ID: mdl-28194777
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.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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Febre Familiar do Mediterrâneo
/
Hidradenite Supurativa
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Pirina
Limite:
Adult
/
Female
/
Humans
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Male
/
Middle aged
Idioma:
En
Revista:
Int J Dermatol
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Turquia