Abstract
Nowadays, in clinical practice, when attending a child with a pustular eruption and systemic inflammation, it is mandatory to think of an autoinflammatory disease, once infectious causes have been ruled out. Although rare, autoinflammatory disease must be recognized as early as possible, accurately diagnosed (including gene testing), and treated with targeted therapy if available.
Highlights
The monogenic autoinflammatory diseases (AIDs) are a group of disorders of dysregulation of innate immune system, characterized by recurrent or continuous inflammation, in the absence of the typical features of autoimmunity, such as autoantibodies or antigen-specific T lymphocytes.[1]
Since the first characterization of the genes underlying familial Mediterranean fever (FMF) in 1997, over 30 diseases have been included to the list of AIDs due to improvement in genetic sequencing and immunologic research.[2,3,4]
The dermatologist assumes here a privileged role in the early diagnosis of an AID, since the skin is one of the major organs involved with urticaria, erysipela-like erythema, erythema nodosum-like lesions, pustular eruptions, acne and pyoderma gangrenosum.[5,6,7,8]
Summary
Erupções Pustulosas em Crianças como Manifestações de Doenças Auto-Inflamatórias. Felicidade Santiago[1], Antonio Torrelo2 1Assistente Hospitalar de Dermatologia e Venereologia/Consultant of Dermatology and Venereology, Centro Hospitalar de Leiria, Portugal 2Assistente Hospitalar de Dermatologia e Venereologia/Consultant of Dermatology and Venereology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. RESUMO – Atualmente, na prática clínica, quando se observa uma criança com uma erupção pustulosa e inflamação sistémica, é mandatório pensar numa doença auto-inflamatória, após excluir uma causa infecciosa. A doença auto-inflamatória deve ser reconhecida o mais precocemente possível, diagnosticada corretamente (incluindo estudo genético), e tratada com terapia dirigida, se disponível. PALAVRAS-CHAVE – Criança; Dermatopatias Vesiculobolhosas/etiologia; Doenças da Pele/etiologia; Doenças Hereditárias Autoinflamatórias/complicações
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