Management of Children with Atopic Dermatitis: A Narrative Review

Context: Atopic dermatitis is a chronic, relapsing skin disorder that affects all ages including infancy and childhood. There are many proved and unproved treatments for atopic dermatitis. Evidence Acquisition: Data sources of this narrative review included studies about pediatric atopic dermatitis with the following keywords, pediatric, atopic dermatitis, immunity, acute, chronic, pruritic inflammatory skin disorder, infancy, childhood, diagnosis, management and treatment. All of the articles were written in English language with full text on management or treatment. Results: Innate and adaptive immune system involved atopic dermatitis. Major characteristics of atopic dermatitis include pruritus, chronic or relapsing lesions and personal or family history of atopic disease. There is no specific treatment for atopic dermatitis. The treatment included rehydration, emollients, topical steroid, calcineurin inhibitors and immunosuppressant. Crisaborole topical ointment, a PDE4 anti-inflammatory topical agent (phase three of the research) could be effective in atopic dermatitis. Conclusions: Avoidance from trigger factors and emollients are basic treatments of atopic dermatitis

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation

Abstract Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS‐induced neutropenia and petechiae in patients with CS

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

Background: Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses. Objective: We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings. Methods: Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID. Results: Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. Clinical disease severity was significantly higher in patients with μ heavy chain and CD40 ligand mutations compared with patients with BTK (P = .003) and activation-induced cytidine deaminase (P = .009) mutations. Paralysis following live polio vaccination was considerably higher in patients with μ heavy chain deficiency compared with BTK deficiency (P < .001). We found a genotype-phenotype correlation among patients with BTK mutations regarding clinical manifestation of meningitis and chronic diarrhea. Surprisingly, we noticed that first presentations in most patients with Immunodeficiency, Centromeric instability, and Facial dysmorphism were respiratory complications (P = .008), whereas first presentations in patients with lipopolysaccharides-responsive beige-like anchor deficiency were nonrespiratory complications (P = .008). Conclusions: This study highlights similarities and differences in the clinical and genetic spectrum of the most common PAD-associated gene defects. This comprehensive comparison will facilitate clinical decision making, and improve prognosis and targeted treatment

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort

Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses