Maria C. Bolling
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View article: Rituximab resistant pemphigus vulgaris successfully treated with obinutuzumab
Rituximab resistant pemphigus vulgaris successfully treated with obinutuzumab Open
View article: Core outcome domain sets for clinical trials in epidermolysis bullosa — a COSEB protocol to achieve consensus on “what” to measure
Core outcome domain sets for clinical trials in epidermolysis bullosa — a COSEB protocol to achieve consensus on “what” to measure Open
View article: SOX2 Is a Potential Diagnostic Biomarker and Anticancer Target in Cutaneous Squamous Cell Carcinoma in Dystrophic Epidermolysis Bullosa: A Case Series Study
SOX2 Is a Potential Diagnostic Biomarker and Anticancer Target in Cutaneous Squamous Cell Carcinoma in Dystrophic Epidermolysis Bullosa: A Case Series Study Open
A serious complication in epidermolysis bullosa (EB), particularly in recessive dystrophic EB, is the development of aggressive cutaneous squamous cell carcinoma with a high risk for metastasis and poor survival outcomes. The current stand…
View article: Navigating challenges in clinical trials for bullous pemphigoid and pemphigus: learnings from the clinical trial graveyard and an international expert survey
Navigating challenges in clinical trials for bullous pemphigoid and pemphigus: learnings from the clinical trial graveyard and an international expert survey Open
This study analysed 32 failed drug development trials and surveyed 56 experts in the field of autoimmune bullous diseases to identify key challenges in bullous pemphigoid and pemphigus research. Clinical trials primarily failed due to unme…
View article: Neonatal Epidermolytic Ichthyosis Caused by a <scp>KRT10</scp> Mutation (c.467G>A, p.Arg156His): A Case Report
Neonatal Epidermolytic Ichthyosis Caused by a <span>KRT10</span> Mutation (c.467G>A, p.Arg156His): A Case Report Open
We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic varian…
View article: Recessive epidermolysis bullosa simplex due to <i>EXPH5</i> variants: case series of a rare subtype with multiple faces
Recessive epidermolysis bullosa simplex due to <i>EXPH5</i> variants: case series of a rare subtype with multiple faces Open
What are the clinical and diagnostic characteristics of patients with recessive epidermolysis bullosa simplex due to pathogenic EXPH5 variants (REBS-EXPH5)? Our case series offers comprehensive characteristics, including a phenotype evolvi…
View article: Bullous and Nonbullous Pemphigoid Associated With Prurigo Nodularis: Successful Treatment With Dupilumab
Bullous and Nonbullous Pemphigoid Associated With Prurigo Nodularis: Successful Treatment With Dupilumab Open
View article: POS1089 VEXAS syndrome as an underlying cause of disease in patients with Sweet syndrome
POS1089 VEXAS syndrome as an underlying cause of disease in patients with Sweet syndrome Open
View article: Protocol for the Development of a Core Outcome Set for Inherited Ichthyosis
Protocol for the Development of a Core Outcome Set for Inherited Ichthyosis Open
Introduction: Inherited ichthyosis comprises a group of rare keratinization disorders caused by abnormal epidermal barrier function. Ichthyosis is yet incurable and current treatments mainly focus on alleviating symptoms such as scaling, e…
View article: Outcome measurement in pemphigus clinical research: a scoping review on heterogeneity in outcome reporting and definitions
Outcome measurement in pemphigus clinical research: a scoping review on heterogeneity in outcome reporting and definitions Open
Background Pemphigus is an autoimmune bullous disease (AIBD) and has two main subtypes, pemphigus vulgaris (PV) and pemphigus foliaceus (PF). For adequate interpretation and comparison of clinical studies in pemphigus, it is essential to h…
View article: Pemphigoid diseases as immune-related adverse effect following immune checkpoint inhibitors: A clinical case series of a diverse spectrum
Pemphigoid diseases as immune-related adverse effect following immune checkpoint inhibitors: A clinical case series of a diverse spectrum Open
View article: Understanding Genotype–Phenotype Correlations of Desmoplakin Splice Site Variants
Understanding Genotype–Phenotype Correlations of Desmoplakin Splice Site Variants Open
View article: Synthetische Hochdurchsatz‐Mikroarrays von Peptidoglykan Fragmenten als neuartiges serodiagnostisches Instrument zur Erstellung von Antikörperprofilen bei Patienten
Synthetische Hochdurchsatz‐Mikroarrays von Peptidoglykan Fragmenten als neuartiges serodiagnostisches Instrument zur Erstellung von Antikörperprofilen bei Patienten Open
Peptidoglykane (PGN) sind komplexe Biopolymere, die für die Integrität und Funktion der Zellwand aller Bakterienarten essenziell sind. Während die entzündungsfördernden Eigenschaften von PGN und seinen Muropeptiden in der angeborenen Immun…
View article: Synthetic High‐Throughput Microarrays of Peptidoglycan Fragments as a Novel Sero‐Diagnostic Tool for Patient Antibody Profiling
Synthetic High‐Throughput Microarrays of Peptidoglycan Fragments as a Novel Sero‐Diagnostic Tool for Patient Antibody Profiling Open
Peptidoglycan (PGN) is a complex biopolymer crucial for cell wall integrity and function of all bacterial species. While the strong inflammatory properties of PGN and its derived muropeptides are well‐documented in human innate immune resp…
View article: Oral health care pathways for patients with epidermolysis bullosa: A position statement from the European reference network for rare skin diseases
Oral health care pathways for patients with epidermolysis bullosa: A position statement from the European reference network for rare skin diseases Open
Background Inherited epidermolysis bullosa (EB) comprises a group of genetic disorders characterized by skin fragility and unique oral features. It requires interdisciplinary care from several health professionals, including oral health te…
View article: Long‐term remission of Hailey–Hailey disease by Er:<scp>YAG</scp> ablative laser therapy
Long‐term remission of Hailey–Hailey disease by Er:<span>YAG</span> ablative laser therapy Open
Background Hailey–Hailey disease (HHD) is a rare genetic therapy‐resistant blistering disease with great disease burden. Treatment is currently focused on symptomatic relief. Er:YAG ablative laser therapy is a therapeutic modality with pro…
View article: Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis
Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis Open
Epidermolytic ichthyosis (EI) is a type of congenital ichthyosis, characterized by erythema and blistering at birth followed by hyperkeratosis. EI is caused by pathogenic variants in the genes KRT1 and KRT10 , encoding the proteins keratin…
View article: Systematic review on antipruritic therapies for patients with Epidermolysis bullosa
Systematic review on antipruritic therapies for patients with Epidermolysis bullosa Open
Current data quality impairs comparative efficacy analyses of itch treatments in EB. Large scale randomized clinical trials and more personalized approaches applying validated measurement instruments for core outcomes are needed to substan…
View article: Towards a roadmap for COSEB: the next steps in harmonization of outcomes for epidermolysis bullosa
Towards a roadmap for COSEB: the next steps in harmonization of outcomes for epidermolysis bullosa Open
The COSEB initiative aims for standardized and uniform measurement by developing core outcome sets for epidermolysis bullosa. This report describes the COSEB workshop organized in December 2023, which led to a broad stakeholder consensus-b…
View article: Navigating the diagnostic journey of epidermolysis bullosa: a qualitative study of the lived experiences and needs of parents and patients
Navigating the diagnostic journey of epidermolysis bullosa: a qualitative study of the lived experiences and needs of parents and patients Open
Background Epidermolysis bullosa (EB) concerns a heterogeneous group of rare genetic skin fragility disorders that result in chronic blistering and wounding. EB significantly affects the daily lives of patients, as well as their families. …
View article: Absence of Epidermal Antibodies in Stevens–Johnson Syndrome/Toxic Epidermal Necrolysis Patients but Beware of Single Positive Results
Absence of Epidermal Antibodies in Stevens–Johnson Syndrome/Toxic Epidermal Necrolysis Patients but Beware of Single Positive Results Open
Background . Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare and potentially life-threatening mucocutaneous blistering diseases that clinically can resemble autoimmune bullous diseases. Moreover, it has been sh…
View article: Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing
Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing Open
Background Genome diagnostics is considered gold standard diagnostics for epidermolysis bullosa (EB), a phenotypically and genetically heterogeneous group of rare disorders characterized by blistering and wounding of mucocutaneous tissues.…
View article: Epidermal growth factor receptor inhibition leads to cellular phenotype correction of <i>DSP</i>‐mutated keratinocytes
Epidermal growth factor receptor inhibition leads to cellular phenotype correction of <i>DSP</i>‐mutated keratinocytes Open
Desmoplakin (DSP) is a desmosomal component expressed in skin and heart, essential for desmosome stability and intermediate filament connection. Pathogenic variants in the DSP gene encoding DSP, lead to heterogeneous skin, adnexa and heart…
View article: Recommendations on single‐cell <scp>RNA</scp> sequencing of skin xenografts in the study of genetic skin diseases
Recommendations on single‐cell <span>RNA</span> sequencing of skin xenografts in the study of genetic skin diseases Open
Xenografts serve as an excellent model for genetic skin disease, since they allow for experimental manipulation of patient tissue in an 'in vivo' setting. Combining xenografts and single-cell RNA sequencing (scRNA-seq) has the potential to…
View article: Harmonization of outcomes in epidermolysis bullosa: report of the Core Outcome Sets for Epidermolysis Bullosa (COSEB) kick-off meeting
Harmonization of outcomes in epidermolysis bullosa: report of the Core Outcome Sets for Epidermolysis Bullosa (COSEB) kick-off meeting Open
The COSEB kick-off meeting was organized in April 2023, and highlighted the stakeholder perspectives on the unmet and urgent need to work towards reasonable harmonization of outcome measurement in epidermolysis bullosa (EB) by developing c…
View article: Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature
Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature Open
Background: Acitretin, a synthetic vitamin A derivative, is the most studied and widely used oral retinoid for ichthyoses. Its major disadvantage is the need for contraceptive measures during 3 years after discontinuation. An…
View article: Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in <i>NIPAL4</i> and <i>PNPLA1</i> and evaluation of novel therapeutic interventions
Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in <i>NIPAL4</i> and <i>PNPLA1</i> and evaluation of novel therapeutic interventions Open
To date, pathogenic variants in 14 genes have been identified to be responsible for autosomal recessive congenital ichthyosis (ARCI), including NIPAL4 and PNPLA1.1, 2 Impaired barrier function in ARCI patients might cause dysregulation of …
View article: Clinical Outcome in <i>KLHL24</i> Cardiomyopathy
Clinical Outcome in <i>KLHL24</i> Cardiomyopathy Open
Pathogenic variants in Kelch-like family member 24 ( as a new cause for skin fragility KLHL24; NM_017644.3) were recently identified and cardiomyopathy. KLHL24 is part of a ubiquitin-ligase complex and mediates substrate recognition of int…
View article: Heterogeneity of reported outcomes in epidermolysis bullosa clinical research: a scoping review as a first step towards outcome harmonization
Heterogeneity of reported outcomes in epidermolysis bullosa clinical research: a scoping review as a first step towards outcome harmonization Open
Background Epidermolysis bullosa (EB) is a rare, genetically and clinically heterogeneous group of skin fragility disorders. No cure is currently available, but many novel and repurposed treatments are upcoming. For adequate evaluation and…
View article: Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1
Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1 Open
Uncombable hair syndrome is a hair shaft condition in which the hair is frizzy, light in color (silver to light brown), and cannot be combed flat. Autosomal dominant (with complete or incomplete penetrance), autosomal recessive, and sporad…