Publications by authors named "Zlotogorski A"

The caspase activation and recruitment domain 11 (CARD11) gene encodes a scaffold protein required for lymphocyte antigen receptor signaling. Dominant-negative, loss-of-function (LOF) pathogenic variants in CARD11 result in CARD11-associated atopy with dominant interference of NF-κB signaling (CADINS) disease. Patients with CADINS suffer with severe atopic manifestations including atopic dermatitis, food allergy, and chronic spontaneous urticaria in addition to recurrent infections and autoimmunity.

View Article and Find Full Text PDF

Objective: The familial type of oral lichen planus (OLP) is rare, with a paucity of data regarding its clinical significance. Our objective was to characterize patients with familial OLP.

Methods: Families with at least two members diagnosed with OLP were included.

View Article and Find Full Text PDF

Background: Baricitinib, an oral, selective, reversible Janus kinase (JAK)1/JAK2 inhibitor, is an approved treatment for adults with severe alopecia areata (AA) in the USA, European Union and Japan.

Objectives: To report safety data for baricitinib in patients with severe AA from two clinical trials including long-term extension periods.

Methods: This analysis includes pooled patient-level safety data from two trials, an adaptive phase II/III trial (BRAVE-AA1) and a phase III trial (BRAVE-AA2) (ClinicalTrials.

View Article and Find Full Text PDF

Melanoma is widely treated with programmed cell death-1 (PD-1) inhibitors. As part of their anti-tumor immunity effect, they increase the susceptibility to cutaneous immune-related adverse events (cIRAE) among other autoimmune effects. To characterize the manifestations of cIRAE in melanoma patients treated with PD-1 inhibitors, and evaluate the correlation with tumor response.

View Article and Find Full Text PDF

Background: Ultraviolet (UV) A1 phototherapy is considered a beneficial treatment for various inflammatory, sclerotic, malignant, and other skin conditions. However, the available data regarding its efficacy for different indications, the potential side effects, and the recommended treatment protocols are sparse.

Objectives: To assess the efficacy of UVA1 phototherapy and identify correlation between different indications and treatment protocols to response rates.

View Article and Find Full Text PDF

Immune checkpoint receptors (ICR) modulate the immune response and are critical hubs for immunotherapy. However, data on their role in T lymphoid malignancies, such as cutaneous T cell lymphoma (CTCL), is sparse. We aimed to explore the role of ICR in the malignant features of transformed T lymphocytes and evaluate the effect of ICR-targeting monoclonal antibodies, often used as immunotherapy for solid tumors.

View Article and Find Full Text PDF

Background: Alopecia areata is an autoimmune condition characterized by rapid hair loss in the scalp, eyebrows, and eyelashes, for which treatments are limited. Baricitinib, an oral, selective, reversible inhibitor of Janus kinases 1 and 2, may interrupt cytokine signaling implicated in the pathogenesis of alopecia areata.

Methods: We conducted two randomized, placebo-controlled, phase 3 trials (BRAVE-AA1 and BRAVE-AA2) involving adults with severe alopecia areata with a Severity of Alopecia Tool (SALT) score of 50 or higher (range, 0 [no scalp hair loss] to 100 [complete scalp hair loss]).

View Article and Find Full Text PDF

Acral peeling skin syndrome is a rare genodermatosis characterized by asymptomatic peeling of the acral skin. It is usually caused by biallelic mutations in the gene TGM5. However, biallelic mutations in the CSTA gene have also been described to cause APSS with exfoliative ichthyosis, so far in only five pedigrees.

View Article and Find Full Text PDF

Background: Continuous, subcutaneous (SC) levodopa/carbidopa infusion with ND0612 is under development as a treatment for patients with Parkinson's disease (PD) and motor fluctuations.

Objective: Evaluate 1-year safety data.

Methods: BeyoND is an open-label study evaluating the long-term safety of two ND0612 dosing regimens.

View Article and Find Full Text PDF
Article Synopsis
  • STAT1 heterozygous gain-of-function mutations lead to immune dysregulation and chronic mucocutaneous candidiasis, with emerging links to demodicosis.
  • A study analyzed five patients (mean age 11.11) from two Jewish families, all presenting with immune issues and demodicosis, revealing a novel STAT1 mutation in four cases.
  • Immune profiling indicated heightened STAT activation, reduced T cell responses, and specific antibody deficiency, suggesting demodicosis could signal underlying immune deficiencies; treatment involved topical ivermectin and metronidazole.
View Article and Find Full Text PDF

Background: Frontal fibrosing alopecia (FFA) has become one of the most common causes of cicatricial alopecia worldwide. However, there is a lack of clear aetiology and robust clinical trial evidence for the efficacy and safety of agents currently used for treatment.

Objectives: To enable data to be collected worldwide on FFA using common criteria and assessment methods.

View Article and Find Full Text PDF
Article Synopsis
  • The study investigates the clinical features of Darier disease, a rare genetic disorder, involving 76 patients through structured interviews, physical exams, and medical record reviews.
  • Most lesions were found on the hands and fingernails, with a unique "wet hand sign" observed, indicating increased visibility after water exposure; 43% of patients also presented with oral lesions.
  • Severe cases showed a significantly higher risk of genital lesions, emphasizing the importance of documenting specific areas like the hands and mucosal regions for accurate diagnosis.
View Article and Find Full Text PDF

Importance: A recent expert consensus exercise emphasized the importance of developing a global network of patient registries for alopecia areata to redress the paucity of comparable, real-world data regarding the effectiveness and safety of existing and emerging therapies for alopecia areata.

Objective: To generate core domains and domain items for a global network of alopecia areata patient registries.

Evidence Review: Sixty-six participants, representing physicians, patient organizations, scientists, the pharmaceutical industry, and pharmacoeconomic experts, participated in a 3-round eDelphi process, culminating in a face-to-face meeting at the World Congress of Dermatology, Milan, Italy, June 14, 2019.

View Article and Find Full Text PDF

Background: We previously reported the Alopecia Areata Consensus of Experts study, which presented results of an international expert opinion on treatments for alopecia areata.

Objective: To report the results of the Alopecia Areata Consensus of Experts international expert opinion on diagnosis and laboratory evaluation for alopecia areata.

Methods: Fifty hair experts from 5 continents were invited to participate in a 3-round Delphi process.

View Article and Find Full Text PDF