Rash, Fever, and Pulmonary Hypertension in a 6‐Year‐Old Female

Buchbinder, David; Sanchez, Gina A. Montealegre; Goldbach‐Mansky, Raphaela; Brunner, Hermine I.; Shulman, Andrew I.

doi:10.1002/acr.23506

Cited by 8 publications

(7 citation statements)

References 35 publications

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“…Four G7 patients (G7-P3, G7-P4, G7-P5, and G7-P6) were treated with JAK inhibitors with partial or good responses. Patient G7-P4 died due to severe pulmonary hypertension, which developed before initiation of JAK inhibitor treatment (30). Two siblings, G7-P1 and G7-P2, have no genetic diagnosis.…”

Section: L I N I C a L M E D I C I N Ementioning

confidence: 99%

“…One patient had anti-MDA5-antibody JDM and received ruxolitinib while on a ventilator for worsening lung disease. The other patient, a CANDLE patient, had severe primary pulmonary hypertension before starting tofacitinib (30). One patient with a psoriasiform dermatitis and scarring skin fibrosis had no response to 9 months of treatment and discontinued baricitinib treatment (G9-P1).…”

Section: L I N I C a L M E D I C I N Ementioning

confidence: 99%

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Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Jesus¹,

Hou²,

Brooks³

et al. 2020

Journal of Clinical Investigation

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167

173

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onset in infancy (SAVI), and another by additive loss-of-function mutations in proteasome genes causing the proteasome-associated autoinflammatory syndromes (PRAAS) (also, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures [CANDLE]), presented with chronically elevated interferon (IFN) signatures, suggesting a pathogenic role for type-I IFN in autoinflammatory diseases (2, 3). Type-I IFN was first discovered as a soluble antiviral factor over 50 years ago, and a role in sterile inflammation was proposed in patients with systemic lupus erythematosus (4). However, the discovery of genetic mutations that cause the autoinflammatory type-I interferonopathies CANDLE (2, 5), SAVI (3, 6-8), and Aicardi-Goutières syndrome (AGS) (9, 10) have shed light on pathomechanisms that drive chronic IFN signaling, and recent studies blocking IFN signaling validate a critical role for type-I IFNs (11). AGS-causing loss-of-function mutations in nucleases impair self-nucleic acid homeostasis, SAVI-causing

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Section: L I N I C a L M E D I C I N Ementioning

confidence: 99%

Section: L I N I C a L M E D I C I N Ementioning

confidence: 99%

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Jesus¹,

Hou²,

Brooks³

et al. 2020

Journal of Clinical Investigation

Self Cite

167

173

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“…Eleven studies reported the results of skin biopsy. 6,9,14,15,[18][19][20][22][23][24][25] The main findings of these biopsies were interstitial and perivascular infiltrate with one of these cells or mixed of them; histiocytic, lymphocytic, polymorphonuclear, atypical/typical mononuclear, or eosinophilic cells. Langerhans cells were also reported in some cases, but mature neutrophils were the most reported ones.…”

Section: Pathological Findingsmentioning

confidence: 99%

Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature Syndrome: A Systemic Review

Altom,

Khader,

Gad

et al. 2023

The American Journal of Dermatopathology

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Background: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome is a rare, hereditary, autoinflammatory disease. However, there are few cases reported in the literature. Therefore, we conduct this systematic review to summarize current evidence. Methods:We conducted a systematic search in July 2021 using 11 different electronic databases. The included articles were screened according to our inclusion and exclusion criteria and assessed using an appropriate quality assessment tool. Then, the relevant data were extracted and summarized in tables accordingly. Each step of the previous one was done by 3 independent reviewers, and the conflicts were resolved by discussion and sometimes by counseling a senior member. Results:The final included studies were 18 articles with 34 cases (mean age = 8 years, male/female = 19/15). The most reported symptoms and signs were fever 97.1%, erythematous plaques 76.5%, arthralgia 67.6%, hepatomegaly 61.8%, violaceous hue 61.8%, lipodystrophy in extremities 53.1% in addition to low weight and height. Rare features were reported too. The laboratories were not specific, which may be explained by a systemic inflammatory response. Vasculitis was the dominant feature in the skin biopsy, whereas the calcification in the basal ganglia was a prominent sign in many cases.Conclusions: Fever, skin lesions, and systemic inflammatory response were the prominent features of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome. The clinical picture is the main guide in addition to the pathological findings. Mutation detection is the confirmatory test. Prednisolone is the most effective reported treatment for acute presentations in the literature.

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“…The first case of non-ILD-related PAH in these disorders was described in a 2-year-old Guatemalan female from a consanguineous union, who was eventually diagnosed with CANDLE syndrome [104]. The child presented with failure to thrive, facial lipodystrophy, recurrent fevers associated with steroid-dependent neutrophilic dermatosis lesions.…”

Section: Pah In Candle Syndromementioning

confidence: 99%

Lung involvement in monogenic interferonopathies

Cazzato¹,

Omenetti²,

Ravaglia³

et al. 2020

Eur Respir Rev

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Monogenic type I interferonopathies are inherited heterogeneous disorders characterised by early onset of systemic and organ specific inflammation, associated with constitutive activation of type I interferons (IFNs). In the last few years, several clinical reports identified the lung as one of the key target organs of IFN-mediated inflammation. The major pulmonary patterns described comprise children's interstitial lung diseases (including diffuse alveolar haemorrhages) and pulmonary arterial hypertension but diagnosis may be challenging. Respiratory symptoms may be either mild or absent at disease onset and variably associated with systemic or organ specific inflammation. In addition, associated extrapulmonary clinical features may precede lung function impairment by years, and patients may display severe/endstage lung involvement, although this may be clinically hidden during the long-term disease course. Conversely, a few cases of atypical severe lung involvement at onset have been reported without clinically manifested extrapulmonary signs. Hence, a multidisciplinary approach involving pulmonologists, paediatricians and rheumatologists should always be considered when a monogenic interferonopathy is suspected. Pulmonologists should also be aware of the main pattern of presentation to allow prompt diagnosis and a targeted therapeutic strategy. In this regard, promising therapeutic strategies rely on Janus kinase-1/2 (JAK-1/2) inhibitors blocking the type I IFN-mediated intracellular cascade.

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Rash, Fever, and Pulmonary Hypertension in a 6‐Year‐Old Female

Cited by 8 publications

References 35 publications

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases

Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature Syndrome: A Systemic Review

Lung involvement in monogenic interferonopathies

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