Atopic dermatitis (AD) is a complex disease characterized by recurrent eczematous lesions and refractory pruritus that drastically impairs quality of life. Due to the chronic and relapsing course, patients are easily trapped in the debilitating condition. Classical therapies show limitations, especially for patients with moderate-to-severe phenotypes. Advanced new insights in targeted therapies exhibit great application prospects which were reinforced by the more profound understanding of the disease pathogenesis. However, the sustained efficiency, biosafety, and long-term benefits still remain in further exploration. This review summarizes recent clinical studies on oral small-molecule inhibitors and biological agents for pediatric AD patients, which provides the latest frontiers to clinicians.
Generalized pustular psoriasis (GPP) is a severe subtype of psoriasis, commonly combined with systemic inflammation. Gene mutations have been found to be associated with GPP and vary by ethnicity. Systemic treatments are usually required for the severity and potential complications of GPP. However, there is no common consensus in China, especially among pediatric patients, whose data are scarce. Acitretin, methotrexate, and cyclosporine are widely used in pediatrics with GPP, while the adverse effects should be highlighted. The emergence of different biological agents brings us into a new era. This article discusses the genetic background of Chinese patients and demonstrates the evidence of treatment in pediatrics with GPP.
Introduction: Lymphatic malformations (LMs) are rare vascular anomalies predominantly affecting infants, which can be debilitating or life-threatening when complicated with intralesional bleeding or infection. Effective and safe management strategies are essential in such cases.
Case presentation: We report a case series involving four Chinese neonates with life-threatening LMs, initially treated with oral sirolimus. All patients achieved rapid relief and sustained remission, using a lower sirolimus dosage than previously recommended. Furthermore, adverse events were rarely recorded during follow-up.
Conclusion: Sirolimus can be considered a promising choice for neonates with intricate and life-threatening LMs. Initiation with a reduced sirolimus dose is advisable.
Importance: Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.
Objective: To analyze the clinical manifestations and gene mutations in Chinese patients with KPI.
Methods: Clinical data were collected from 13 children diagnosed with KPI, and peripheral blood DNA samples were extracted from both the patients and their parents Next-generation sequencing was performed using a congenital ichthyosis multi-gene panel, and the selected variants in the patients and their parents were further validated using the Sanger sequencing method.
Results: Genetic analysis identified missense mutations in either KRT1 or KRT10 in ten patients exhibiting varying degrees of severity and distinct features of epidermolytic ichthyosis. A missense hotspot mutation in KRT2 was identified in one patient with superficial epidermolytic ichthyosis. Additionally, two truncation mutations in KRT10 were detected, leading to the development of generalized ichthyosiform erythroderma. Ear malformation and ectropion at birth, scalp involvement, and palmoplantar hyperkeratosis were observed as early signs of ichthyosis with confetti.
Interpretation: We analyzed the genotype-phenotype correlations in KPI, revealing that the types and locations of different mutations are associated with distinct phenotypic characteristics. Oral acitretin could be considered a treatment option for severe patients at an appropriate dosage and timing.
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