Sarcomas are tumors of mesenchymal origin that are generally resistant to systemic therapies and prone to local recurrence despite current multimodal treatment approaches. Focused ultrasound (FUS) is a noninvasive therapeutic technology that may enhance standard treatment strategies for primary solid malignancies. FUS exerts its effects through diverse mechanisms, including high-intensity focused ultrasound (HIFU) thermal ablation, histotripsy, sonodynamic therapy, immunomodulation, and hyperthermia-enhanced drug delivery. In this narrative review, we summarize the mechanisms of focused ultrasound that have been investigated for the treatment of sarcomas and highlight the results of preclinical, veterinary, and clinical studies related to this area.
Background: Immune checkpoint inhibitors (ICIs) are monoclonal antibodies that block inhibitory pathways that cancer cells exploit to suppress T‐cell activation. Although immune‐related adverse events (irAEs) linked to ICI therapy are well documented and encompass dermatologic, endocrine, gastrointestinal, hepatic, and neurologic systems, ICI‐related dysautonomia remains a rare phenomenon. Management of ICI‐related dysautonomia is undefined.Case: We report the case of a 57‐year‐old male patient treated with neoadjuvant nivolumab for Merkel cell carcinoma who developed ICI‐related dysautonomia. His dysautonomia was characterized by orthostatic hypotension, urinary retention, hearing loss, and binocular diplopia in addition to the development of ICI‐related hepatitis. We describe the patient's course, including the treatment and outcome of his dysautonomia, and review the literature on this rare toxicity.Conclusion: Due to the mechanism of action of ICIs, irAEs can present with a wide range of manifestations. In this case, prompt recognition of ICI‐induced dysautonomia and timely administration of intravenous immunoglobulin (IVIG) led to significant clinical improvement. ICI‐induced dysautonomia is a rare condition that is difficult to diagnose and manage.
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous syndrome caused by pathogenic alterations in the tumor suppressor protein neurofibromin. NF1 is characterized clinically by café-au-lait macules, skinfold freckling, iris hamartomas, benign and malignant nerve sheath tumors, optic pathway tumors, skeletal abnormalities, breast malignancies, and neurocognitive challenges. Although progress has been made in understanding biological sex- and gender identity–based differences in a variety of dermatologic conditions, the role of these factors on NF1 and vice versa is not well-defined. In this narrative review, we examine the reciprocal influences of biological sex and gender identity on various NF1 clinical features, discuss the psychosocial and sociocultural factors that may contribute to these observed effects, and highlight historical artistic depictions of NF1. We also identify gaps in our current knowledge in this area that warrant additional research. A comprehensive understanding of NF1 clinical presentations through the lens of biological sex and gender identity can lead to a patient-centered approach of treatment, thereby improving long-term outcomes for affected patients.
30 January 2025 in Australasian Journal of Dermatology
Erdheim-Chester Disease (ECD) is a rare non-Langerhans cell histiocytosis with widely variable presentations. Cutaneous findings typically consist of yellow-brown papules and plaques on the eyelids, neck, axillae, trunk, and/or groin. ECD can be diagnosed along with or subsequently to Langerhans Cell Histiocytosis (LCH), constituting a mixed histiocytosis phenotype. In this Brief Article, we present the case of a patient with LCH who developed new lesions on the scalp and axillae consistent with ECD. We emphasize the consideration of co-occurring ECD or other mixed phenotypes in patients diagnosed LCH who develop new cutaneous findings.