Publications by authors named "Nathalia Bellon"

12 Publications

  • Page 1 of 1

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.

Orphanet J Rare Dis 2020 06 6;15(1):142. Epub 2020 Jun 6.

Dermatology Department, reference Centre MAGEC, Necker- Enfants Malades Hospital, Paris-Centre University, Paris, France.

Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence of extra-cutaneous involvement and complications. A number of emergency situations may occur in the context of EB including obstruction to oral intake from oral or esophageal blisters or scarring, acute airway obstruction, acute urinary retention, sepsis and corneal erosions. Whilst general management principles apply in each of these settings, specific considerations are essential in managing EB to avoid undue trauma or damage to delicate tissues. These recommendations have been developed from a literature review and consensus from experts of the European Network for Rare Skin Disorders (ERN-Skin) to aid decision-making and optimize clinical care by non-EB expert health professionals encountering emergency situations in babies, children and adults with EB.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-020-01403-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7276067PMC
June 2020

Laryngeal stenosis associated with epidermolysis bullosa simplex.

JAAD Case Rep 2020 May 3;6(5):465-467. Epub 2020 May 3.

Dermatology, Centre Hospitalier Régional Universitaire Brest, Brest, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdcr.2020.02.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203509PMC
May 2020

Effectiveness and safety of dupilumab for the treatment of atopic dermatitis in a real-life French multicenter adult cohort.

J Am Acad Dermatol 2019 Jul 27;81(1):143-151. Epub 2019 Feb 27.

Unité Fonctionnelle de Dermatologie, Sorbonne Université, AP-HP, Hôpital La Pitié-Salpêtrière, Paris, France.

Background: Dupilumab is the first biologic available to treat atopic dermatitis (AD). Its effectiveness and safety were demonstrated in clinical trials.

Objective: We sought to assess the effectiveness and safety of dupilumab in adults with AD in a real-life French multicenter retrospective cohort.

Methods: We included patients treated during March 2017-April 2018. Efficacy outcomes, including Scoring Atopic Dermatitis (SCORAD) and Eczema Area and Severity Index (EASI) scores, were collected at baseline and 3 months when available. Adverse events (AEs) were recorded at follow-up.

Results: We included 241 patients. The median ± interquartile range (IQR) follow-up time was 3.8 ± 3.7 months. A ≥75% improvement in SCORAD was achieved in 27 of 163 (16.6%) patients, and a ≥75% improvement in EASI was achieved in 40 of 82 (48.8%) patients. The median SCORAD and EASI scores at 3 months were significantly lower than those at baseline (SCORAD ± IQR, 25 ± 21 vs 56 ± 27.4, P < 10 and EASI ± IQR, 4.1 ± 6.8 vs 17.9 ± 15.4, P < 10, respectively). Conjunctivitis was reported in 84 of 241 (38.2%) patients. The proportion with eosinophilia (>500 cells/mm) during follow-up (57%) was higher than that at baseline (33.7%) (n = 172, P < 10). Dupilumab was stopped in 42 cases; 27 patients stopped because of AEs.

Limitations: No control group, missing data.

Conclusion: This real-life study demonstrated a similar dupilumab effectiveness as that seen in clinical trials, but it also revealed a higher frequency of conjunctivitis and eosinophilia.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2019.02.053DOI Listing
July 2019

Epidermal necrolysis French national diagnosis and care protocol (PNDS; protocole national de diagnostic et de soins).

Orphanet J Rare Dis 2018 04 10;13(1):56. Epub 2018 Apr 10.

Dermatology Department, AP-HP, Henri Mondor Hospital, 51 avenue du maréchal de Lattre de Tassigny, 94000, Créteil, France.

Epidermal necrolysis (EN) encompasses Stevens-Johnson syndrome (SJS, < 10% of the skin affected), Lyell syndrome (toxic epidermal necrolysis, TEN, with ≥30% of the skin affected) and an overlap syndrome (10 to 29% of the skin affected). These rare diseases are caused, in 85% of cases, by pharmacological treatments, with symptoms occurring 4 to 28 days after treatment initiation. Mortality is 20 to 25% during the acute phase, and almost all patients display disabling sequelae (mostly ocular impairment and psychological distress).The objective of this French national diagnosis and care protocol (protocole national de diagnostic et de soins; PNDS), based on a critical literature review and on a multidisciplinary expert consensus, is to provide health professionals with an explanation of the optimal management and care of patients with EN. This PNDS, written by the French National Reference Center for Toxic Bullous Dermatoses was updated in 2017 ( https://www.has-sante.fr/portail/jcms/c_1012735/fr/necrolyse-epidermique-syndromes-de-stevens-johnson-et-de-lyell ). The cornerstone of the management of these patients during the acute phase is an immediate withdrawal of the responsible drug, patient management in a dermatology department, intensive care or burn units used to dealing with this disease, supportive care and close monitoring, the prevention and treatment of infections, and a multidisciplinary approach to sequelae. Based on published data, it is not currently possible to recommend any specific immunomodulatory treatment. Only the culprit drug and chemically similar molecules must be lifelong contraindicated.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0793-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894129PMC
April 2018

Multifocal fixed drug eruption to ceftazidime in a child with cystic fibrosis.

Pediatr Allergy Immunol 2018 02 28;29(1):115-117. Epub 2017 Nov 28.

Université Paris Descartes, Paris, France.

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1111/pai.12829DOI Listing
February 2018

Detection of interferon alpha protein reveals differential levels and cellular sources in disease.

J Exp Med 2017 05 18;214(5):1547-1555. Epub 2017 Apr 18.

ImmunoQure AG, 42012 Düsseldorf, Germany.

Type I interferons (IFNs) are essential mediators of antiviral responses. These cytokines have been implicated in the pathogenesis of autoimmunity, most notably systemic lupus erythematosus (SLE), diabetes mellitus, and dermatomyositis, as well as monogenic type I interferonopathies. Despite a fundamental role in health and disease, the direct quantification of type I IFNs has been challenging. Using single-molecule array (Simoa) digital ELISA technology, we recorded attomolar concentrations of IFNα in healthy donors, viral infection, and complex and monogenic interferonopathies. IFNα protein correlated well with functional activity and IFN-stimulated gene expression. High circulating IFNα levels were associated with increased clinical severity in SLE patients, and a study of the cellular source of IFNα protein indicated disease-specific mechanisms. Measurement of IFNα attomolar concentrations by digital ELISA will enhance our understanding of IFN biology and potentially improve the diagnosis and stratification of pathologies associated with IFN dysregulation.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1084/jem.20161451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413335PMC
May 2017

Eosinophilic esophagitis and colonic mucosal eosinophilia in Netherton syndrome.

J Allergy Clin Immunol 2017 06 23;139(6):2003-2005.e1. Epub 2016 Dec 23.

Descartes-Sorbonne Paris Cité University, Paris, France; Department of Dermatology, Referral Center for Genodermatoses (MAGEC), Imagine Institute, Necker-Enfants Malades Hospital (AP-HP), Paris, France. Electronic address:

View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaci.2016.10.045DOI Listing
June 2017

In vitro modeling of hyperpigmentation associated to neurofibromatosis type 1 using melanocytes derived from human embryonic stem cells.

Proc Natl Acad Sci U S A 2015 Jul 6;112(29):9034-9. Epub 2015 Jul 6.

INSERM U-861, Institut des cellules Souches pour le Traitement et l'Etude des Maladies monogéniques (I-Stem), Association Française contre les Myopathies (AFM), 91030 Evry Cedex, France; Université d'Evry Val d'Essonne (UEVE) U-861, I-Stem, AFM, 91030 Evry Cedex, France;

"Café-au-lait" macules (CALMs) and overall skin hyperpigmentation are early hallmarks of neurofibromatosis type 1 (NF1). One of the most frequent monogenic diseases, NF1 has subsequently been characterized with numerous benign Schwann cell-derived tumors. It is well established that neurofibromin, the NF1 gene product, is an antioncogene that down-regulates the RAS oncogene. In contrast, the molecular mechanisms associated with alteration of skin pigmentation have remained elusive. We have reassessed this issue by differentiating human embryonic stem cells into melanocytes. In the present study, we demonstrate that NF1 melanocytes reproduce the hyperpigmentation phenotype in vitro, and further characterize the link between loss of heterozygosity and the typical CALMs that appear over the general hyperpigmentation. Molecular mechanisms associated with these pathological phenotypes correlate with an increased activity of cAMP-mediated PKA and ERK1/2 signaling pathways, leading to overexpression of the transcription factor MITF and of the melanogenic enzymes tyrosinase and dopachrome tautomerase, all major players in melanogenesis. Finally, the hyperpigmentation phenotype can be rescued using specific inhibitors of these signaling pathways. These results open avenues for deciphering the pathological mechanisms involved in pigmentation diseases, and provide a robust assay for the development of new strategies for treating these diseases.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.1501032112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4517235PMC
July 2015

The value of anti-desmoglein enzyme-linked immunosorbent assay in the immunological follow-up of pemphigus.

Dermatology 2014 10;229(3):256-62. Epub 2014 Sep 10.

Department of Dermatology, Hôpitaux Universitaires Henri Mondor, Créteil, France.

Background: The value of anti-desmoglein 1 and 3 (Dsg1, Dsg3) enzyme-linked immunosorbent assay (ELISA) is controversial in the follow-up of pemphigus.

Objective: To evaluate anti-desmoglein ELISA (Dsg ELISA) in the follow-up of pemphigus and compare ELISA with direct and indirect immunofluorescence in complete remission (CR).

Methods: We performed a retrospective monocenter study of patients with pemphigus and consecutive sera samples collected at baseline (M0), 12 months (M12) and 24 or 36 months after M0 (M24/36). Tests were compared in CR and in active disease. Direct immunofluorescence and circulating autoantibodies were compared for patients with stable CR.

Results: We included 36 patients. At M12, ELISA values did not differ between CR and active disease. At M24/36, Dsg3 but not Dsg1 ELISA values were lower in CR (p = 0.07). For 5/8 patients with stable CR, direct immunofluorescence and ELISA findings remained positive.

Conclusion: In routine practice, Dsg ELISA seems to be of little interest for immunological follow-up of pemphigus.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1159/000365079DOI Listing
July 2015

Cutaneous location of atypical teratoid/rhabdoid tumour.

Acta Derm Venereol 2014 Jul;94(4):454-6

Department of Dermatology, Descartes-Paris V University, Necker-Enfants Malades Hospital, Paris, France.

Atypical teratoid/rhabdoid tumour is a rare and highly malignant tumour of the posterior fossae nervous system that occurs in children especially in the first few years of life. Cutaneous location is not previously reported. A newborn boy was referred for both aqueductal stenosis detected antenatally and skin tags mimicking hamartoma. The cerebral tumour increased in size during a few months leading to both skin and cerebral biopsies. Integrase Interactor-1 (INI-1) immunostaining and tumoural and leukocytes INI-1 gene sequencing confirmed the atypical teratoid/rhabdoid tumour nature of the cerebral tumour. INI-1 immunostaining in skin biopsy confirmed the dermal location of rhabdoid tumour. Thus, unusual cutaneous lesions may be part of atypical teratoid/rhabdoid tumour. The loss of Integrase INI-1 on immunohistochemical staining is characteristic.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-1716DOI Listing
July 2014

Auricular chondritis and thrombotic microangiopathy: an unusual combination revealing systemic lupus erythematosus.

Joint Bone Spine 2013 Jul 16;80(4):424-5. Epub 2013 Jan 16.

AP-HP, Department of Internal Medicine, Bicêtre University Medical Center, 78, rue du Général-Leclerc, 94275 Le-Kremlin-Bicêtre, France.

Thrombotic microangiopathy is a severe disorder, which is a cause of stroke in young patients. Etiologic investigations are mandatory to diagnose underlying disease. Systemic lupus erythematosus is one of the diseases, which can be associated with thrombotic microangiopathy. Although lupus diagnosis is usually easy, relying on characteristic clinical manifestations, rare symptoms can be misinterpreted. We report here a case of polychondritis, which was the first manifestation of a lupus-associated thrombotic microangiopathy.
View Article and Find Full Text PDF

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbspin.2012.11.002DOI Listing
July 2013
-->