Autoinflammation in pyoderma gangrenosum and its syndromic form (pyoderma gangrenosum, acne and suppurative hidradenitis).

Marzano, A V; Damiani, G; Ceccherini, I; Berti, E; Gattorno, M; Cugno, M

Marzano, A V; Damiani, G; Ceccherini, I; Berti, E; Gattorno, M; Cugno, M.

Afiliación

Marzano AV; IRCCS Cà Granda Foundation, Dermatology Unit, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20122, Italy.
Damiani G; IRCCS Cà Granda Foundation, Dermatology Unit, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20122, Italy.
Ceccherini I; Istituto Gaslini, Genetica Medica, Genoa, Italy.
Berti E; IRCCS Cà Granda Foundation, Dermatology Unit, Department of Pathophysiology and Transplantation, University of Milan, Milan, 20122, Italy.
Gattorno M; Istituto Gaslini, Genetica Medica, Genoa, Italy.
Cugno M; Internal Medicine, University of Milan, Milan, 20122, Italy.

Br J Dermatol ; 176(6): 1588-1598, 2017 Jun.

Article en En | MEDLINE | ID: mdl-27943240

RESUMEN

BACKGROUND: Pyoderma gangrenosum (PG) is a rare skin disease characterized clinically by ulcers with undermined borders, and histologically by neutrophil-rich infiltrates. PG may occur alone, in syndromic forms or associated with systemic diseases, such as inflammatory bowel disease and haematological or rheumatological disorders. OBJECTIVES: To determine a specific genetic background related to autoinflammation for PG. METHODS: We assessed autoinflammation by evaluating the cytokine profile and genes involved in classic autoinflammatory diseases in 13 patients with PG and in seven patients with the syndromic form, known as PASH (pyoderma gangrenosum, acne and suppurative hidradenitis). RESULTS: In skin samples, the expression of interleukin (IL)-1ß and its receptors, IL-17 and its receptor, and tumour necrosis factor-α and its receptors were significantly higher in both PG (P = 0·001) and in PASH (P < 0·001) than in controls. The chemokines IL-8; chemokine (C-X-C motif) ligand 1/2/3; chemokine (C-X-C motif) ligand 16; and RANTES (regulated on activation, normal T-cell-expressed and secreted) were also overexpressed. Cases of PG and PASH showed mutations in the autoinflammatory genes MEFV, NLRP3, NLRP12, NOD2, LPIN2 and PSTPIP1. CONCLUSIONS: Overexpression of cytokines/chemokines, along with genetic changes, supports the hypothesis that PG and its syndromic form, PASH, are a spectrum of polygenic autoinflammatory conditions.

Asunto(s)

Acné Vulgar/genética; Enfermedades Autoinmunes/genética; Citocinas/metabolismo; Dermatitis/genética; Hidradenitis Supurativa/genética; Piodermia Gangrenosa/genética; Acné Vulgar/metabolismo; Adolescente; Adulto; Anciano; Enfermedades Autoinmunes/metabolismo; Dermatitis/metabolismo; Femenino; Hidradenitis Supurativa/metabolismo; Humanos; Leucocitos/metabolismo; Masculino; Metaloproteinasas de la Matriz/metabolismo; Persona de Mediana Edad; Mutación/genética; Piodermia Gangrenosa/metabolismo; Receptores de Citocinas/metabolismo; Selectinas/metabolismo; Piel/metabolismo; Síndrome; Inhibidores Tisulares de Metaloproteinasas/metabolismo; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Citocinas / Piodermia Gangrenosa / Hidradenitis Supurativa / Acné Vulgar / Dermatitis Límite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Br J Dermatol Año: 2017 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido

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