Skin manifestations in Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)New article

Schmaltz, Rebecca; Vogt, Thomas; Reichrath, Jörg

doi:10.4161/derm.2.1.12387

Cited by 37 publications

(23 citation statements)

References 17 publications

(33 reference statements)

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“…43 TNF receptoreassociated periodic syndrome TNF receptoreassociated periodic syndrome (TRAPS) is a dominantly inherited disorder that presents with prolonged periodic fevers (typically 7-21 days), erysipelas-like macules and patches overlying focal myalgia, abdominal pain, conjunctivitis, unilateral periorbital edema, and occasional lymphadenopathy. 60,61 Most patients develop skin manifestations during early childhood: warm, blanchable, erythematous macules and patches with a tendency to migrate from the trunk to distal extremities. Other morphologies include widespread reticulate erythema or annular edematous plaques.…”

Section: Blau Syndromementioning

confidence: 99%

Autoinflammation: From monogenic syndromes to common skin diseases

Nguyen

Cowen

Leslie

2013

Journal of the American Academy of Dermatology

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Autoinflammation is characterized by aberrant regulation of the innate immune system and often manifests as periodic fevers and systemic inflammation involving multiple organs, including the skin. Mutations leading to abnormal behavior or activity of the interleukin 1 beta (IL-1ß)-processing inflammasome complex have been found in several rare autoinflammatory syndromes, for which anticytokine therapy such as IL-1 or tumor necrosis factor-alfa inhibition may be effective. It is becoming clear that features of autoinflammation also affect common dermatoses, some of which were previously thought to be solely autoimmune in origin (eg, vitiligo, systemic lupus erythematosus). Recognizing the pathogenetic role of autoinflammation can open up new avenues for the targeted treatment of complex, inflammatory dermatoses.

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Section: Blau Syndromementioning

confidence: 99%

Autoinflammation: From monogenic syndromes to common skin diseases

Nguyen

Cowen

Leslie

2013

Journal of the American Academy of Dermatology

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“…Early signs consist of erythematous macules and papules in groups or isolated, and are characterized by a migratory pattern, classically centrifugal, expanding towards the periphery in large plaques in the course of days [64]. Annular and serpiginous patches can also occur [7,65]. Myalgia is typically migratory and associated with an overlying tender erythematous skin rash.…”

Section: Traps Clinical Featuresmentioning

confidence: 99%

Key facts and hot spots on tumor necrosis factor receptor‐associated periodic syndrome

et al. 2014

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Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), formerly known as familial Hibernian fever, is the most common autosomal dominant autoinflammatory disease, resulting from mutations in the TNFRSF1A gene, encoding the 55-kD tumor necrosis factor receptor. The pathophysiologic mechanism of TRAPS remains ambiguous and only partially explained. The onset age of the syndrome is variable and the clinical scenery is characterized by recurrent episodes of high-grade fever that typically lasts 1-3 weeks, associated with migrating myalgia, pseudocellulitis, diffuse abdominal pain, appendicitis-like findings, ocular inflammatory signs, and risk of long-term amyloidosis. Fever episodes are responsive to high-dose corticosteroids, but different classes of drugs have been reported to be ineffective. The use of etanercept is unable to control systemic inflammation, while interleukin-1 blockade has been shown as effective in the control of disease activity in many patients reported so far.

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“…El receptor TNFR1 está formado por tres tipos de estos dominios: el CRD1, o dominio preligando que interactúa con otros homólogos produciendo homotrímeros; el CRD2 y CRD3 que interactúan con el factor de necrosis tumoral alfa (13). La mayoría de las mutaciones asociadas a TRAPS alteran la estructura tridimensional del TNFR1 al sustituir aminoácidos en los dominios ricos en cisteína y alterando los enlaces disulfuro (1,15) Aún no es clara la relación entre el genotipo y el fenotipo de la enfermedad, dado que hay un alto grado de heterogeneidad entre las diferentes mutaciones y los pacientes con la misma mutación. Las que afectan los residuos de cisteína tienen una alta penetrancia de la enfermedad y una mayor probabilidad de progresión en amiloidosis (6,16).…”

Section: Bases Genéticasunclassified

“…Una consecuencia de la mayoría de las mutaciones TRAPS es la activación del factor de transcripción NFkB. Se describen mecanismos que regulan ascendentemente la expresión del receptor de TNF, pudiendo causar activación celular a través de la vía de señalización de NFkB (15,26).…”

Section: Hipótesis De La Reducción De La Señalización De Nfkbunclassified

TRAPS, síndrome periódico asociado al receptor de necrosis tumoral: inmunopatogénesis y enfoque clínico

Moreno-Zuluaga

Velásquez‐Lopera

2018

iatreia

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Skin manifestations in Tumor necrosis factor receptor-associated periodic syndrome (TRAPS)New article

Cited by 37 publications

References 17 publications

Autoinflammation: From monogenic syndromes to common skin diseases

Autoinflammation: From monogenic syndromes to common skin diseases

Key facts and hot spots on tumor necrosis factor receptor‐associated periodic syndrome

TRAPS, síndrome periódico asociado al receptor de necrosis tumoral: inmunopatogénesis y enfoque clínico

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