43 results match your criteria: "National Centre for Rare Skin Disorders[Affiliation]"

The term 'sclerosing diseases of the skin' comprises specific dermatological entities, which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present consensus provides an update to the 2017 European Dermatology Forum Guidelines, focusing on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis.

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The term 'sclerosing diseases of the skin' comprises specific dermatological entities, which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present consensus provides an update to the 2017 European Dermatology Forum Guidelines, focusing on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis.

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Background: Clinical factors associated with vitiligo in patients receiving anti-programmed cell death-1 (PD-1) remain unknown.

Objective: To better characterize the occurrence of vitiligo in patients receiving anti-PD-1.

Methods: The present single-center ambispective cohort study included patients with melanoma treated with anti-PD-1.

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Management of albinism: French guidelines for diagnosis and care.

J Eur Acad Dermatol Venereol

July 2021

Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), Hôpital Universitaire Necker- Enfants Malades, Assistance Publique - Hôpitaux de Paris-Centre (AP-HP5), Paris, France.

Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco-cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies.

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Topical rapamycin versus betamethasone dipropionate ointment for treating oral erosive lichen planus: a randomized, double-blind, controlled study.

J Eur Acad Dermatol Venereol

October 2020

Department of Dermatology and Allergology, Hospital Tenon, Université Paris VI Pierre et Marie Curie, Sorbonnes Universités, Paris, France.

Background: Although superpotent topical corticosteroids are the first-line treatment for oral erosive lichen planus (OELP), topical rapamycin was found efficient in a previous case series.

Objectives: To compare the efficacy and safety of topical rapamycin and betamethasone dipropionate ointment for OELP in a randomized, double-blind trial.

Methods: Patients were randomized to receive treatment with betamethasone dipropionate ointment 0.

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Article Synopsis
  • P63 is a crucial transcription factor for skin development and is linked to ectodermal dysplasia syndromes (ED), specifically EEC and AEC, caused by mutations affecting skin cell functions.
  • Patients with these syndromes experience various developmental issues, including skin erosions, but treatments with PRIMA-1 have shown promise in enhancing skin cell differentiation and healing.
  • The study highlights the potential of PRIMA-1, currently used in cancer therapy, as a topical treatment to improve the quality of life for patients with AEC by promoting skin re-epithelialization and reducing pain.
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Introduction: Several therapeutic options are available to manage anogenital warts (AGWs). However, no hierarchy of treatments is provided in the latest European and American recommendations. This study aimed to determine the efficacy and safety of local treatments for the management of AGWs.

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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.

J Clin Endocrinol Metab

July 2018

Sorbonne Université, INSERM, UMR_S 938 Centre de Recherche Saint Antoine, Assistance Publique - Hôpitaux de Paris (APHP), Hôpital Armand Trousseau, Explorations Fonctionnelles Endocriniennes, Paris, France.

Context: Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with phenotypic (prenatal and postnatal growth retardation, early feeding difficulties) and molecular overlap.

Objective: To describe the clinical overlap between SRS and TS and extensively study the molecular aspects of TS.

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Inflammasome Activation Characterizes Lesional Skin of Folliculitis Decalvans.

Acta Derm Venereol

June 2018

Department of Dermatology and Pediatric Dermatology, National Centre for Rare Skin Disorders, Hôpital Saint-André, 1 rue Jean Burguet, FR-33075 Bordeaux Cedex, France.

Folliculitis decalvans (FD) is a chronic inflammatory disease leading to scarring alopecia with poorly defined pathogenesis. The aim of this study was to investigate the expression of markers associated with the activation of innate immune signals, such as inflammasome (NALP1 and NALP3), interleukin (IL)-1β and IL-8 and type I interferon (MxA). A retrospective monocentric study was conducted and included 17 patients with FD with available biopsies.

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The term 'sclerosing diseases of the skin' comprises specific dermatological entities, which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present guideline focuses on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis.

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The term 'sclerosing diseases of the skin' comprises specific dermatological entities which have fibrotic changes of the skin in common. These diseases mostly manifest in different clinical subtypes according to cutaneous and extracutaneous involvement and can sometimes be difficult to distinguish from each other. The present guideline focuses on characteristic clinical and histopathological features, diagnostic scores and the serum autoantibodies most useful for differential diagnosis.

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Unwanted lentigines after topical tacrolimus for vitiligo.

Australas J Dermatol

November 2017

Department of Dermatology and Paediatric Dermatology, National Centre for Rare Skin Disorders, Hôpital Pellegrin-Enfants, CHU de Bordeaux, Bordeaux, France.

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Toxicity profiles of immunotherapy.

Pharmacol Ther

January 2018

Early Phase Trials Unit, Institut Bergonié, 229 Cours de l'Argonne, 33000 Bordeaux, France; Department of Medicine, Institut Bergonié, 229 Cours de l'Argonne, 33000 Bordeaux, France. Electronic address:

Immunotherapies are changing the landscape of advanced solid tumor treatment. These therapies have different mechanisms of action and include oncolytic viruses, checkpoint inhibitors, such as CTLA-4 or PD1/PD-L1 monoclonal antibodies, and CSF-1R antibodies. Given the growing therapeutic impact of these agents in oncology, it is important to better understand their properties.

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Vitiligo is an acquired chronic depigmenting disorder of the skin, with an estimated prevalence of 0.5% of the general population, characterized by the development of white macules resulting from a loss of epidermal melanocytes. The nomenclature has been revised after an extensive international work within the vitiligo global issues consensus conference, and vitiligo (formerly non-segmental vitiligo) is now a consensus umbrella term for all forms of generalized vitiligo.

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Cryotherapy to treat anogenital warts in nonimmunocompromised adults: Systematic review and meta-analysis.

J Am Acad Dermatol

September 2017

Antilles-Guyane University, Fort-de-France, Martinique; Délégation à la Recherche Clinique et à l'Innovation, Centre Hospitalier Universitaire de Martinique, Fort-de-France, Martinique; Department of Dermatology, Centre Hospitalier Universitaire de Martinique, Fort-de-France, Martinique.

Background: Cryotherapy is one of the most commonly used therapeutic modalities to treat anogenital warts (AGWs), but this treatment was not clearly established in the recent international recommendations.

Objective: To compare the efficacy and safety of cryotherapy versus other AGW treatments.

Methods: Through a systematic search of 12 electronic databases, we identified 11 randomized controlled trials, screened from database inception through October 2016, that met the inclusion criteria (including immunocompetent adults with AGWs receiving cryotherapy in 1 of the comparison groups).

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Psoriasiform eruptions are a classical adverse skin reaction of tumour necrosis factor (TNF)-α inhibitors. The aim of this study was to identify the association between the severity or pattern of psoriasiform reactions and the underlying disease. A retrospective study was conducted between January 2012 and May 2015.

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Anti-tumour necrosis factor α-induced lupus erythematosus panniculitis.

J Eur Acad Dermatol Venereol

July 2017

Department of Dermatology and Pediatric Dermatology, National Centre for Rare Skin disorders, Hôpital Saint-André, 1, rue Jean Burguet, 33000, Bordeaux, France.

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DLQI as a major criterion for introduction of systemic agents in patients with mild psoriasis.

J Eur Acad Dermatol Venereol

November 2016

Department of Dermatology and Pediatric Dermatology, National Centre for Rare Skin disorders, Hôpital Saint-André, Bordeaux, France.

Background: Psoriasis is a skin inflammatory chronic disease with negative physical, psychological and social repercussions for those affected. However, patients suffering from mild disease also complain about negative impact on their quality of life, making it difficult for physicians to choose the best treatment strategy.

Objectives: Understanding the impact of systemic treatments on Quality of Life (QoL) in patients with mild psoriasis in daily practice.

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Skin induration remains the major clinical symptom of systemic sclerosis (SSc), an autoimmune disease with potentially life-threatening visceral involvement. However, skin induration can be absent in some patients, making the diagnosis difficult to confirm and leading to delay in management. Skin pigmentation abnormalities have been reported in patients with SSc, and can be important to recognize for diagnosis.

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