he quest for strategies and tools that facilitate early detection of melanoma with high sensitivity and specificity remains a continuing effort. In 2 studies, 1,2 20% to 30% of early melanomas were initially undetected by dermatologists from academic institutions and practicing dermatologists experienced in managing pigmented lesions and familiar with dermoscopy. The inherent limitations of image recognition make the visual assessment of pigmented skin lesions challenging even for experienced dermatologists, and tools such as dermoscopy or computer-aided image analysis of skin lesions can reduce, but not overcome, these inherent limitations. 3 The established standard of care, which is to biopsy most suspicious lesions, is linked to many surgical biopsies. Various studies analyzing the number needed to treat (ie, the number of surgical biopsies obtained to detect a melanoma) have reported these values ranging from 8 for experienced dermoscopy users to 30 or more for other health care professionals. [4][5][6] A highly accurate, simple, noninvasive diagnostic modality is desired by health care professionals and patients.A large validation study including a total of 555 patients established that a noninvasive diagnostic modality, termed pigmented lesion assay (PLA; DermTech, Inc) and based on expression profiles of the long intergenic non-protein coding RNA 518 IMPORTANCE Expression of long intergenic non-protein coding RNA 518 (LINC00518) and preferentially expressed antigen in melanoma (PRAME) genes, obtained via noninvasive adhesive patch biopsy, is a sensitive and specific method for detection of cutaneous melanoma. However, the utility of this test in biopsy decisions made by dermatologists has not been evaluated.OBJECTIVE To determine the utility of the pigmented lesion assay (PLA) for LINC00518/PRAME expression in decisions to biopsy a series of pigmented skin lesions. DESIGN, SETTING, AND PARTICIPANTSIn this secure web-based, multiple-readermultiple-case study, 45 board-certified dermatologists each evaluated 60 clinical and dermoscopic images of clinically atypical pigmented lesions, first without and then with PLA gene expression information and were asked whether the lesions should be biopsied. Data were collected from March 24, 2014, through November 13, 2015.INTERVENTIONS Participants were given a report for each lesion, which included the results of an assay for expression of LINC00518/PRAME and a PLA score with data on the predictive values of the information provided. MAIN OUTCOMES AND MEASURESBiopsy sensitivity and specificity with vs without PLA data.RESULTS Forty-five dermatologists (29 male and 16 female) performed the evaluation. After incorporating the PLA into their decision as to whether to biopsy a pigmented lesion suggestive of melanoma, dermatologists improved their mean biopsy sensitivity from 95.0% to 98.6% (P = .01); specificity increased from 32.1% to 56.9% (P < .001) with PLA data. CONCLUSIONS AND RELEVANCEThe noninvasive PLA enables dermatologists to significantly improve biopsy s...
Instances of perioral and labial foreign body reactions to a variety of injectable dermal fillers were selected from the oral and maxillofacial pathology and dermatopathology archives at Pacific Pathology Laboratory of San Diego with the objective being to engender a compilation of histopathologic characteristics that allow the pathologist to identify the inciting materials. All cases of foreign body reactions located in the lips and perioral regions were reviewed by four pathologists, retaining those cases with a history of injection lip augmentation as well as those with histologic features previously documented to represent dermal filler substances. In selected cases, Alcian blue pH 2.5 with and without hyaluronidase pretreatment was performed. Immunohistochemical markers for macrophages (CD 68), adipocytes (S-100) and keratinocytes (AE1/AE2) were undertaken. All instances presented as single or multiple submucosal plaques, nodules or swellings. Natural polymers including collagen, hyaluronate, hydroxyapatite, poly-Llactate and synthetic polymers including carboxymethyl cellulose, dimethylpolysiloxane, and polyethyl methacrylate induce histologically unique features that allow for their identification. Host histopathologic responses included nodule without foreign body reaction, nodule with chronic inflammation, granuloma with epithelioid histiocytic and multinucleated giant cell reaction. Dermal filler foreign body host reactions in conjunction with the morphology of the foreign materials themselves are unique and can be differentiated from one another microscopically.
In den letzten zwei Jahrzehnten sind zahlreiche Fälle bekanntgeworden, in denen nichtdiphtherische Laryngitiden bei Kleinkindern zu höchst bedrohlicher Atemnot geführt haben. Zum Unterschied vom diphtherischen Croup spricht man vom Pseudocroup oder auch Grippe-Croup und versteht hierunter die akuten subgiottischen Laryngitiden.Davon zu unterscheiden sind die supraglottischen Laryngitiden, denen das entscheidende Merkmal des Pseudocroup, nämlich der behende Husten, fehlt. Aus diesem Formenkreis soll auf die perakute Epiglottitis eingegangen werden, wie sie vereinzelt schon 1934 und 1937 in der Schweiz beobachtet und 1947 von Dolivo (5) als Epiglottitis phlegmonosa oedernatiens acutissima beschrieben wurde. Es handelt sich um eine sehr schwere, perakut verlaufende Erkrankung, die unbehandelt in wenigen Stunden zum Tode führt. Bei uns war sie bis vor wenigen Jahren praktisch unbekannt, sie scheint jedoch in letzter Zeit zuzunehmen. Zunächst war vermehrtes Auftreten in der Schweiz (5, 8) und in den USA (9, 16) beobachtet worden. Jetzt werden auch bei uns Erkrankungsfälle vermerkt (1, 19, 21). Eigene BeobachtungenNachdem einer von uns (2) über ein 1I4 Jahre altes Kind berichtet hatte, sahen wir in den letzten zwei Jahren weitere sieben Kinder mit Epiglottitis acutissima. Fall 1: Bei dem 11/sjährigen Knaben Ra. E. waren anamnestisdi keine ernsthaften Krankheiten zu ermitteln. Am Aufnahmetag sei das Kind noch vormittags völlig gesund gewesen, mittags Fieber um 40° C um 19 Uhr Erbrechen und zunehmendes Röcheln. Um 22 Uhr wurde es unter der Diagnose ,,Enteritis" in die Universitäts-Kinderklinik (Direktor: Prof. Dr. Wiedemann) eingewiesen und von dort sofort unter der Diagnose ,,Pseudocroup' in die Universitäts-Hals-Nasen-Ohren-Klinik verlegt. Aufnahmebefund: Das Kind war ansprechbar, hatte starken inspiratorischen Stridor. Atmung trotz Einsatzes der Hilfsmuskulatur nahezu frustran. Lippen livide verfärbt. Frequenter Puls. Kein Husten. Die Inspektion des Rachens zeigte eine leichte Rötung, die Tonsillen waren unauffällig. Epiglottis und aryepiglottische Falten waren bei direkter Laryngoskopie wurstförmig stark geschwollen und gerötet. Medial auf der Epiglottiskuppe war ein Blutpunkt sichtbar. Temperatur 39° C. Im Blutbild Leukozytose von 29 400 mit Linksversdilebung und relativer Lymphopenie bei Fehlen der Eosinophilen. Behandlung und Verlauf: nach sofortiger Intubation Tracheotomie in Lokalanästhesie. Unmittelbar danach freie Atmung. Die Trachea war frei von Rötung, Schleim und
The major characteristics of tricho-rhino-phalangeal syndrome (TRPS) include shortened and deviated digits, a typical facies with a pear-shaped nose, a long philtrum and slow-growing, fine, sparse hair. Cone-shaped digital epiphyses are seen on x-ray. A few patients with TRPS are mentally retarded. Associated endocrine abnormalities have been reported. Autosomal dominant and recessive patterns of inheritance have been described with most cases showing a dominant mode of inheritance.
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