Primary cutaneous γδ T-cell lymphoma (CGD-CTL) is a rare malignancy that classically exhibits an aggressive clinical phenotype.
Review cases of mycosis fungoides with a γδ phenotype that demonstrated an indolent clinical course.
Retrospective review of patients diagnosed with MF with a γδ phenotype and an indolent clinical course between 2018 and 2022 treated at the University of Utah.
Five patients ages 4-81 years old were identified. All presented with clinically persistent patch or plaque-stage disease, and histopathology showed primarily epidermotropic infiltrates positive for TCR delta via immunostaining. None of these patients have required aggressive treatment with multiagent chemotherapy.
There exists a subset of indolent CGD-TCL patients who are clinicopathologically distinct from classic CGD-CTL and clinically resembling indolent MF. Therefore, we prefer the term “MF with γδ phenotype” for these rare cases.
Systemic mastocytosis (SM) is characterized by abnormal mast cell accumulation in various tissues, including the skin, and encompasses several clinical variants, ranging from less aggressive to more severe forms. ISM, the most common variant, often presents with cutaneous manifestations, causing significant impairment in QoL due to mediator-release symptoms and stigma associated with typical cutaneous lesions.
The study aimed to assess QoL impairment in ISM patients and its correlation with demographic and clinical data.
A cohort of 52 adult ISM patients was evaluated using the Dermatology Life Quality Index (DLQI) and the mastocytosis QoL questionnaire (MC-QoL). Questionnaire scores were then analyzed in relation to the clinical and demographic characteristics of the patients.
Over half of the patients experienced mild or higher levels of impairment in QoL, with female patients showing greater impairment than males. Patients with recent symptom onset reported higher MC-QoL scores, possibly due to psychological factors and lack of disease knowledge. Cutaneous symptoms significantly impacted QoL, and the visibility of lesions affected DLQI scores more than MC-QoL scores. A moderately strong correlation was observed between DLQI and MC-QoL scores, particularly in the Skin and Social Life domains. The study highlights gender differences in QoL impairment, suggesting the need for further investigation into potential social or cultural factors.
While the study provides valuable insights into QoL impairment in ISM patients, its monocentric nature and small sample size are notable limitations. Further research is warranted to better understand the impact of SM on patients' well-being and to identify effective strategies for managing symptoms and improving overall QoL in this population.
v-Raf murine sarcoma viral oncogene homolog B (BRAF) mutations were first identified in melanoma in 2002, leading to increased cell division and proliferation, and resultant tumour growth. The identification and characterisation of BRAF mutations (BRAFmut) led to the development of several highly specific, BRAF-, then mitogen-activated kinase enzyme (MEK)-targeted therapies that have enabled rapid tumour responses and improved treatment outcomes in most patients with metastatic BRAFmut melanoma. The combination of these two drug classes (BRAF inhibitors and MEK inhibitors) has demonstrated improved response rates, progression-free survival, and overall survival (OS), along with a more tolerable safety profile, compared with BRAF inhibition alone. In parallel, improved knowledge of the immune system has enabled the development of immune checkpoint inhibitors (ICIs), although immune-related adverse events with ICIs may prove to be problematic in some patients and require careful management. While targeted therapy appears to provide rapid disease control in a relatively high proportion of patients, the development of secondary resistance may limit the overall duration of responses. Acquired resistance, along with primary resistance, has also been reported for ICIs, with a lower overall response rate to that with targeted therapy, although durable responses have been reported in some responding patients. A combination strategy of targeted therapy with ICIs has demonstrated modest increases in efficacy compared with targeted therapy combinations, although data significance varies across studies, there is increased risk of toxicity, and triple combination therapy has not yet received clinical approval in Europe. Thus, there is an ongoing need to establish optimal sequencing of these treatments in patients with advanced BRAFmut melanoma, and this has become the focus of current research. The aim of this narrative review was to provide an update on the treatment of BRAFmut metastatic melanoma, current guideline recommendations, and future clinical perspectives.
Therapeutic management of hair loss is frequently complicated by a lack of high-quality evidence and reliant on the use of unlicensed therapies. Treatment decision-making is predominantly based on expert opinion, local availability, personal experience, and cost, which make informed choices challenging for clinicians and patients in this area.
The aims were to determine prescribing patterns amongst UK Dermatologists with a special interest in hair disorders, when treating mild-moderate alopecia areata (AA), severe AA (including alopecia totalis/alopecia universalis), female pattern hair loss (FPHL) and frontal fibrosing alopecia (FFA).
Consultant members of the British Hair and Nail society, a special interest group affiliated to the British Association of Dermatologists, were invited to participate from across the United Kingdom. Participants were questioned on their current prescribing patterns in both NHS and private practice, were asked to rank their first-to-fifth line treatments for each condition and highlight the treatment they perceive as most effective for each disorder.
Twenty-six Consultant Dermatologists completed the questionnaire, from twenty-three institutions. For treatment of mild-moderate AA, topical corticosteroids were used first line amongst 65% (n = 17) of respondents, and 82% (n = 23) reported that intralesional corticosteroids were the most effective treatment. For severe AA, oral corticosteroids were used first line amongst 38% (n = 10) of respondents, and 25% (n = 8) reported that oral corticosteroids were the most effective treatment. For FPHL, topical minoxidil was used first line amongst 84% (n = 25) of respondents, and 42% (n = 10) reported that oral minoxidil was the most effective treatment. For FFA, topical corticosteroids were used first line amongst 62% (n = 16) of respondents, and 37% (n = 14) reported that hydroxychloroquine was the most effective treatment.
This study reports real-world prescribing practices amongst dermatologists treating common hair loss conditions. These results aim to support clinicians with decision making for managing hair loss conditions.
Eosinophilic pustular folliculitis (EPF) is a noninfectious follicular based inflammatory dermatosis. We present a case of a 57-year-old female of Indian ethnicity who developed a pustular eruption, with certain lesions displaying Koebnerization. Given that the morphologic distribution most represented the immunosuppressant EPF subtype, additional testing led to the discovery of concurrent IgA deficiency. This case highlights a particularly unusual presentation of EPF associated with IgA deficiency and Koebner phenomenon.
A noninvasive, accurate diagnostic method for melanoma is needed to improve early detection and decrease number of excisions. Gene expression as measured by RNA levels uses tape strips to directly assesses genetic markers from skin lesions. Commercial RNA assays show varying diagnostic accuracy in melanoma detection. Combining dermoscopic features with RNA tape strips could reduce unnecessary removal of benign lesions by increasing specificity.
To test an RNA-based rule-out test and integrate dermoscopic features with RNA analysis to improve diagnostic accuracy of malignant melanoma (MM). Furthermore, we explore the association between RNA profiles and dermoscopic features.
Seventy patients with pigmented skin lesions suspected of being melanoma were imaged with dermoscopy and tape stripped for RNA analysis before surgical excision. The images were evaluated for seven dermoscopic features, and RNA levels of 11 genes were analyzed. A combined test using both gene expression and dermoscopic features was developed. Associations between RNA profiles and dermoscopic features were explored.
Histopathology revealed 19 malignant lesions (17 MM and two basal cell carcinomas) and 51 benign lesions. The combined dermoscopy and RNA test identified all malignant lesions (100% sensitivity) based on PRAME expression, blotch and regression structures and patient age. This combined model increased specificity to 35%, compared to 24% with the original RNA rule-out test, without missing any malignant lesions. Significant differences in RNA profiles were observed for lesions expressing atypical network and regression structures.
Combining RNA tape stripping with dermoscopic features can reduce the removal of benign lesions by over one-third while maintaining 100% sensitivity. We found specific RNA profiles to be strongly associated with dermoscopic features, presenting a promising opportunity to integrate molecular and morphological information and provide valuable guidance for dermatologists managing atypical pigmented lesions.
A 11-year-old girl presented with hypertrichosis in the lumbosacral region, which has been present since birth. Right after birth, the girl underwent surgical intervention for spina bifida with no neurological impairment. On clinical examination, a circumscribed collection of terminal hair is observed on nonpigmented skin in the lumbar spine region (Figure 1a). Skin biopsy was performed, and histologic analysis revealed only a few scattered melanocytes in the basal epidermis and a characteristic dense aggregation of hair follicles (Figure 1b).
Lumbosacral hypertrichosis, also known as ‘Faun's tail’ after the Italian deity, is a classic sign of dysraphism.1 This generic term describes pathologic conditions related to improper closure of the caudal neuropore and encompasses all conditions associated with spina bifida occulta, traction band or diastematomyelia.1, 2 The division between the neuroectoderm and the epithelial ectoderm takes place between the third and fifth week of fetal development, commencing along the posterior midline.2 This separation may remain incomplete at various stages, resulting in potential defects in the skin, vertebrae, spinal cord and/or central nervous system, sometimes symptoms may not appear until the child is a toddler or older.3 Hence, in cases of lumbosacral hypertrichosis, consideration should be given to an underlying spinal abnormality, prompting subsequent relevant investigations. The most important differential diagnosis is congenital hairy nevus.
The authors confirm contribution to the paper as follows: Clinical case collection: Sarah Preis. Draft manuscript preparation: Sarah Preis. Manuscript review and proof-reading: Christina Schnopp. All authors reviewed the results and approved the final version of the manuscript.
The authors declare no conflict of interest.
The parents/guardians of minor patients have given written informed consent for their child's participation in the study, as well as for the use of their child's deidentified, anonymized, aggregated data and case details (including photographs) for publication. Ethical Approval: not applicable.
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