Scabies is a common, highly contagious skin parasitosis caused by Sarcoptes scabiei var. hominis. Early identification and prompt treatment of infested subjects is essential, as missed diagnosis may result in outbreaks, considerable morbidity, and significantly increased economic burden. The standard diagnostic technique consists of mites’ identification by microscopic examination of scales obtained by skin scraping. This is a time-consuming and risk-associated procedure that is also not suitable to a busy practice. In recent years, some advanced and noninvasive techniques such as videodermatoscopy, dermatoscopy, reflectance confocal microscopy, and optical coherence tomography have demonstrated improved efficacy in the diagnosis of scabies. Their advantages include rapid, noninvasive mass screening and post-therapeutic follow-up, with no physical risk. A greater knowledge of these techniques among general practitioners and other specialists involved in the intake care of overcrowded populations vulnerable to scabies infestations is now viewed as urgent and important in the management of outbreaks, as well as in consideration of the recent growing inflow of migrants in Europe from North Africa.
Recent studies have identified translocations involving the kinase domains of ALK, NTRK1, BRAF, RET, and ROS in spitzoid neoplasms. Subsequent studies have also characterized morphologic features corresponding to ALK and NTRK1 translocations. In this study, we sought to further compare morphologic features across a range of 49 genetically defined spitzoid neoplasms with ALK, NTRK1, BRAF, or RET fusions to determine discriminating features. We also compared them with a group of 22 spitzoid neoplasms, which were confirmed to be negative for fusions in ALK, NTRK1, BRAF, and RET. Features with the highest discriminatory value included diameter of the lesion, dermal architecture, and certain cytomorphologic features. Specifically, cases with a large diameter (≥9 mm) and wedge-shaped, plexiform dermal architecture of nests of large, spindle-shaped cells were most likely to have an ALK fusion. NTRK1-fused cases were most likely of the fusions to have Kamino bodies and were typically arranged in smaller nests with smaller predominantly spindle-shaped cells, occasionally forming rosettes. BRAF fusion cases were the only fusion subtype to have a predominance of epithelioid cells, were less organized in nests, and commonly had a sheet-like growth pattern or dysplastic Spitz architecture. BRAF fusion cases were most likely to have high-grade nuclear atypia, to be diagnosed as spitzoid melanoma, to have a positive result by melanoma fluorescence in situ hybridization assay, and to develop copy number gains in the kinase domain of the fusion protein. On the basis of experience from this cohort, BRAF-fused cases appear most likely to progress to melanoma.
Plaque psoriasis is a common, chronic, inflammatory disease with a multifactorial etiopathogenesis. Although its diagnosis is often based on clinical features, in ambiguous cases a biopsy with histopathologic confirmation may be necessary. Advanced high-definition imaging techniques may be useful in the study of skin properties in vivo and may facilitate therapeutic monitoring. Available imaging tools vary in their resolution, depth of penetration and visual representation (horizontal, vertical, three-dimensional), and in the type of skin structures visualized. The purpose of this review is to analyze a variety of non-invasive techniques that may assist in establishing definitive diagnoses, as well as in the therapeutic monitoring of psoriasis. These include dermoscopy, videocapillaroscopy (VC), high-frequency ultrasound (HFUS), reflectance confocal microscopy (RCM), laser Doppler imaging (LDI), optical coherence tomography (OCT), optical microangiography (OMAG) and multiphoton tomography (MPT). Their characteristics, indications, advantages, and limits are reviewed and discussed. Dermoscopy may be useful for a first, rapid outpatient evaluation. Videocapillaroscopy and HFUS represent the imaging techniques with the longest history of use in psoriasis. However, whereas VC is useful in both diagnosis and therapeutic monitoring, the utility of HFUS appears to be limited to the monitoring of response to therapy only. Both devices are cost-effective and easy to use in the office setting. Both RCM and OCT allow high-resolution microscopic imaging of psoriatic plaque in a manner comparable with that of virtual histopathology and represent more promising techniques. The utility of LDI, OMAG, and MPT in psoriasis skin imaging requires further study and validation.
IMPORTANCE Patients with germline mutations in BAP1 may develop several flesh-colored melanocytic BAP1-mutated atypical intradermal tumors (MBAITs). These tumors generally develop earlier than other BAP1-associated tumors, highlighting an important role for dermatologists in identifying and screening patients with a history suggestive of a germline mutation.OBJECTIVE To describe 8 new families with germline mutations in BAP1 and provide a comprehensive review of reported cases. DESIGN, SETTINGS AND PARTICIPANTSPatients were identified in an outpatient dermatology clinical setting over a 6-month period (10 mutation carriers from 8 families) and through a literature review using PubMed (205 patients).EXPOSURES Mutations were identified through next-generation sequencing of saliva or blood samples, and RNA was extracted from fibroblasts cultured from a patient with an intronic variant to determine the impact of the mutation on the coding sequence. MAIN OUTCOMES AND MEASURESAll 215 patients were assessed for personal and/or family history and genotype. These findings were compiled and assessed for any association between genotype and phenotype.RESULTS Overall, this study included 215 patients (108 women, 91 men, and 16 gender unspecified; median [range] age, 46.5 [10.0-79.0] years). Nine of the 10 patients who were identified in the outpatient dermatology setting were found to have MBAITs on clinical examination. Forty of 53 patients (75%) identified in the literature review who underwent total-body skin examinations (TBSE) were found to have MBAITs, suggesting a high penetrance in patients who have undergone TBSE. The most prevalent malignancies among BAP1 mutation carriers were uveal melanoma (n = 60 [28%]), mesothelioma (n = 48 [22%]), cutaneous melanoma (n = 38 [18%]), and renal cell carcinoma (n = 20 [9%]). A total of 71 unique mutations in BAP1 have been reported. CONCLUSIONS AND RELEVANCEOur results indicate that germline mutations in both coding and noncoding regions throughout the BAP1 gene can impair protein function, leading to an increased risk for several associated malignancies. Four of the 8 probands we present had no history of BAP1-associated malignancies and were assessed for germline mutations when found to have MBAITs on dermatologic examination. Dermatologists can identify patients with a high likelihood of the BAP1 cancer syndrome through personal and family history and TBSE for the presence of possible MBAITs.
Acral melanoma is distinct from melanoma of other cutaneous sites, yet there is considerable variation within this category. To better define this variation, we assessed melanomas occurring on dorsal (n = 21), volar (n = 9), and subungual/interdigital (n = 13) acral skin as well as acral nevi (n = 24) for clinical, histologic, and molecular features. Melanomas on dorsal acral surfaces demonstrated clear differences compared with volar and subungual/interdigital melanomas. The latter two groups exhibited significantly less frequent BRAF mutations (P = 0.01), were significantly less likely to have the superficial spreading histologic subtype (P = 0.01), occurred in older patients (P = 0.05), and had more frequent involvement in non-Caucasians (P = 0.01). These differences can be explained by differing levels of UV exposure. Subungual/interdigital melanomas had the most diverse group of oncogenic mutations including PIK3CA (2/13), STK11 (2/13), EGFR (1/13), FGFR3 (1/13), and PTPN11 (1/13). In addition, subungual/interdigital melanomas had a significantly higher frequency of copy number aberrations (67%) than other subgroups (P = 0.02), particularly in CDK4 and cyclin D1, and were less likely to have BRAF mutations or a superficial spreading histologic subtype (P = 0.05) compared with volar acral melanomas. Although based on a limited sample size, differences between volar and subungual/interdigital melanomas in our study may be the result of differing levels of UV exposure.
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