E. Bourrat
YOU?
Author Swipe
View article: <scp>TNF</scp> Inhibitor Therapy in Corticosteroid‐Resistant or ‐Dependent Pediatric Neutrophilic Dermatosis
<span>TNF</span> Inhibitor Therapy in Corticosteroid‐Resistant or ‐Dependent Pediatric Neutrophilic Dermatosis Open
Neutrophilic dermatoses are rare in children. Systemic corticosteroids are the first‐line treatment, but guidelines for second‐line therapies are lacking. We report five cases of children with systemic steroid‐resistant/dependent neutrophi…
View article: Mycosis Fungoides in Pediatric Patients Revealed by Recalcitrant Psoriasiform Palmoplantar Keratoderma
Mycosis Fungoides in Pediatric Patients Revealed by Recalcitrant Psoriasiform Palmoplantar Keratoderma Open
Mycosis fungoides is a cutaneous T‐cell lymphoma with a classically relatively good prognosis, mostly diagnosed in men over the age of 50. It classically manifests as erythematosquamous plaques, but can take a variety of forms. Here we des…
View article: Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants
Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants Open
Background Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders. NF1 is caused by dominant loss-of-function pathogenic variants (PVs) of the tumour-suppressor gene NF1 , which encodes neurofibromin, a negative regul…
View article: Systems immunology integrates the complex endotypes of recessive dystrophic epidermolysis bullosa
Systems immunology integrates the complex endotypes of recessive dystrophic epidermolysis bullosa Open
Endotypes are characterized by the immunological, inflammatory, metabolic, and remodelling pathways that explain the mechanisms underlying the clinical presentation (phenotype) of a disease. Recessive dystrophic epidermolysis bullosa (RDEB…
View article: Splice modulation strategy applied to deep intronic variants in <i>COL7A1</i> causing recessive dystrophic epidermolysis bullosa
Splice modulation strategy applied to deep intronic variants in <i>COL7A1</i> causing recessive dystrophic epidermolysis bullosa Open
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and most often severe genetic disease characterized by recurrent blistering and erosions of the skin and mucous membranes after minor trauma, leading to major local and systemic c…
View article: Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa
Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa Open
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare severe hereditary skin disease characterized by skin and mucosa fragility, resulting in blister formation. The most severe complication in RDEB patients is the development of cuta…
View article: Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa
Citrullinated Histone H3, a Marker for Neutrophil Extracellular Traps, Is Associated with Poor Prognosis in Cutaneous Squamous Cell Carcinoma Developing in Patients with Recessive Dystrophic Epidermolysis Bullosa Open
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare severe hereditary skin disease characterized by skin and mucosa fragility, resulting in blister formation. The most severe complication in RDEB patients is the development of cuta…
View article: Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 <scp><i>HRAS</i></scp>‐positive variant patients
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 <span><i>HRAS</i></span>‐positive variant patients Open
Background Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description. Objectives To describe the dermatological manifestations of CS; compare them with the literature findings; a…
View article: Cerebral dural arteriovenous fistulas in patients with <scp> <i>PTEN</i> </scp> ‐related hamartoma tumor syndrome
Cerebral dural arteriovenous fistulas in patients with <span> <i>PTEN</i> </span> ‐related hamartoma tumor syndrome Open
Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN ‐related hamartoma tumor syndrome (PHTS). However, PHTS‐associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we stud…
View article: Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations Open
Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations i…
View article: Low risk of embryonic and other cancers in <i>PIK3CA</i><scp>‐related</scp> overgrowth spectrum: Impact on screening recommendations
Low risk of embryonic and other cancers in <i>PIK3CA</i><span>‐related</span> overgrowth spectrum: Impact on screening recommendations Open
The PIK3CA ‐related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various cancer types. Some generalized overgrowth syndromes are associa…
View article: Self-application of aminoglycoside-based creams to treat cutaneous leishmaniasis in travelers
Self-application of aminoglycoside-based creams to treat cutaneous leishmaniasis in travelers Open
Background In endemic foci, the use of an aquaphilic cream containing paromomycin with/without gentamicin to treat cutaneous leishmaniasis (CL) is safe, painless and cures 78–82% of patients with New and Old World CL. Self-application in t…
View article: Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis
Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis Open
Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroder…
View article: <i>AQP5</i>, a second gene at play with <i>CFTR</i> in aquagenic palmoplantar keratoderma
<i>AQP5</i>, a second gene at play with <i>CFTR</i> in aquagenic palmoplantar keratoderma Open
International audience
View article: Children with psoriasis and COVID‐19: factors associated with an unfavourable COVID‐19 course, and the impact of infection on disease progression (Chi‐PsoCov registry)
Children with psoriasis and COVID‐19: factors associated with an unfavourable COVID‐19 course, and the impact of infection on disease progression (Chi‐PsoCov registry) Open
Background The COVID‐19 pandemic has raised questions regarding the management of chronic skin diseases, especially in patients on systemic treatments. Data concerning the use of biologics in adults with psoriasis are reassuring, but data …
View article: Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa
Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa Open
BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating, and life-threatening inherited skin fragility disorder that comes about due to a lack of functional type VII collagen, for which no effective therapy exist…