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Dermatitis , Granuloma , Humanos , Dermatitis/patología , Dermatitis/diagnóstico , Granuloma/patología , Granuloma/diagnóstico , Masculino , Femenino , AdultoRESUMEN
Cognitive bias may lead to medical error, and awareness of cognitive pitfalls is a potential first step to addressing the negative consequences of cognitive bias (see Part 1). For decision-making processes that occur under uncertainty, which encompass most physician decisions, a so-called "adaptive toolbox" is beneficial for good decisions. The adaptive toolbox is inclusive of broad strategies like cultural humility, emotional intelligence, and self-care that help combat implicit bias, negative consequences of affective bias, and optimize cognition. Additionally, the adaptive toolbox includes situational-specific tools such as heuristics, narratives, cognitive forcing functions, and fast and frugal trees. Such tools may mitigate against errors due to cultural, affective, and cognitive bias. Part 2 of this two-part series covers metacognition and cognitive bias in relation to broad and specific strategies aimed at better decision-making.
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Cognitive bias may lead to diagnostic error in the patient encounter. There are hundreds of different cognitive biases, but certain biases are more likely to affect patient diagnosis and management. As during morbidity and mortality rounds, retrospective evaluation of a given case, with comparison to an optimal diagnosis, can pinpoint errors in judgment and decision-making. The study of cognitive bias also illuminates how we might improve the diagnostic process. In Part 1 of this series, cognitive bias is defined and placed within the background of dual process theory, emotion, heuristics, and the more neutral term judgment and decision-making bias.
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ABSTRACT: Spiny keratoderma is a rare entity presenting with minute keratotic spines on the palms and soles. Spiny keratoderma can be inherited or acquired, and the acquired form may be associated with underlying malignancy or systemic disease. Clinically, the differential diagnosis includes other digitate keratoses on acral sites, most notably arsenical keratosis, filiform verruca, and punctate porokeratosis. Biopsy findings typically include a column of parakeratosis overlying a diminished granular cell layer. In this article, we present 3 cases of acquired spiny keratoderma in patients with various systemic diseases, but no underlying malignancy.
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Queratodermia Palmoplantar , Humanos , Femenino , Masculino , Persona de Mediana Edad , Queratodermia Palmoplantar/patología , Queratodermia Palmoplantar/diagnóstico , Anciano , Biopsia , AdultoRESUMEN
BACKGROUND: Apart from the skin, little is known about the immunological processes in deeper tissues, which are typically not accessible to biopsy and inspection, of vascularized composite allografts (VCAs). Face transplant patients develop prominent adenopathy shortly after transplantation that resolves over time. The mechanisms underlying this process are not understood. MATERIALS AND METHODS: A retrospective cohort study was conducted on 9 patients who underwent 10 facial VCAs at the Brigham and Women's Hospital, Boston, MA, between April 2009 and July 2019. Clinical, radiological, and histological data related to lymphadenopathy of the head and neck were reviewed. RESULTS: Patients who received donor-derived lymph nodes (LNs) developed bilateral lymphadenopathy of the submental or submandibular superficial LNs. Median time of presentation was POD18 (range POD6-POM3). Notably, bilateral adenopathy of the neck was not observed in later stages of follow-up (mean follow-up, 115 months). Histology of 3 LNs showed increased histiocytes and apoptosis, with the features reminiscent of necrotizing histiocytic lymphadenitis, and B and T lymphocytes (mostly CD8 + T) admixed with CD163 + histiocytes and dendritic cells. Molecular chimerism analysis in one case showed the coexistence of donor (81%) and recipient (19%) derived lymphocytes. Granzyme B (GZMB) expression confirmed the presence of increased cytotoxic T cells in this LN sample. CONCLUSION: Our data suggested the involvement of an immunological process within the donor-derived LNs after facial allotransplantation between the recipient and donor cells. GZMB expression suggested LN rejection that can occurred independently of skin rejection. This finding supports the need to better define the role of donor-derived immune cells in the context of allograft rejection.
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Aloinjertos Compuestos , Linfadenopatía , Alotrasplante Compuesto Vascularizado , Humanos , Femenino , Estudios Retrospectivos , Supervivencia de Injerto , Rechazo de Injerto , Alotrasplante Compuesto Vascularizado/efectos adversos , Ganglios Linfáticos , Linfadenopatía/patologíaRESUMEN
BACKGROUND: Histopathologic overlap between cutaneous squamous cell carcinoma (cSCC) and its indolent mimics likely leads to the overdiagnosis of cSCC. OBJECTIVE: To perform a pilot study of the p53 immunohistochemical scoring system developed on vulvar squamous lesions in cSCC. METHODS: The consistency and reliability of p53 immunostaining using a scoring system developed on vulvar cases, as compared with TP53 genomic sequencing, was studied in an initial cohort of 28 cutaneous cases. p53 labeling was further assessed in an additional 63 cases of atypical squamous lesions, including 20 atypical squamous lesions classified by the authors as benign, 22 cases diagnosed as cSCC without high-risk features, and 21 cases of high-risk cSCC (cSCC-HR). RESULTS: The concordance of p53 labeling and TP53 sequencing was 82.1%. Four positive patterns of p53 mutation were identified: basal, parabasal/diffuse, null, and cytoplasmic. p53 positivity in atypical, benign squamous lesions (10%) was significantly lower than that of low-risk cSCC (63.6%, p = 0.0004) or cSCC-HR (90.5%, p < 0.0001). p53 positivity in low-risk cSCC versus cSCC-HR was not statistically significant (p = 0.07). CONCLUSION: p53 Labeling may be a helpful biomarker to support the diagnosis of cSCC and distinguish cSCC from atypical but benign mimics.
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Carcinoma de Células Escamosas , Neoplasias Cutáneas , Neoplasias de la Vulva , Femenino , Humanos , Carcinoma de Células Escamosas/patología , Proteína p53 Supresora de Tumor/genética , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Proyectos Piloto , Inmunohistoquímica , Reproducibilidad de los Resultados , Neoplasias de la Vulva/diagnóstico , Neoplasias de la Vulva/patologíaRESUMEN
ABSTRACT: Preferentially expressed antigen in melanoma (PRAME) immunohistochemistry is currently used to facilitate distinction of benign and malignant melanocytic proliferations. We hypothesized that evaluation of 1 institution's experience with PRAME labeling in a large number of consecutive cases might elucidate additional strengths and potential pitfalls and reveal base rates of positivity versus negativity in 1 academic practice. Pathology reports for all specimens on which PRAME labeling was performed at our institution between January 2021 and May 2022 were retrieved from our database. Eighty percent of conventional malignant melanomas were labeled diffusely positive with PRAME; there were no significant differences in mean age, sex, site, Breslow depth, ulceration status, or American Joint Committee on Cancer pathological tumor stage when comparing diffusely PRAME-positive malignant melanomas with those that lack diffuse labeling. Although no banal melanocytic nevi were labeled with PRAME, 13% of dysplastic nevi were diffusely PRAME positive, with junctional proliferations, severe atypia, male gender, and older age being associated with PRAME positivity. As some but not all ambiguous melanocytic lesions in which malignancy could not be excluded based on morphology alone were diffusely PRAME positive, PRAME's accuracy in predicting malignancy remains unclear to the authors; further study is needed to assess the precision to which PRAME immunohistochemistry can separate benign borderline lesions from their malignant counterparts. Among nonmelanocytic lesions, some poorly differentiated tumors, including atypical fibroxanthomas, can be PRAME positive. This series underscores the importance of clinicopathologic correlation and shows that diffuse PRAME positivity is highest in conventional malignant melanomas (â¼80%, or 8 of 10 lesions), is seen in about half of challenging borderline lesions at our institution, and can be observed in lesions diagnosed as dysplastic nevi by our group (â¼10% or 1 in 10 lesions), as well as in rare poorly differentiated malignancies.
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Síndrome del Nevo Displásico , Melanoma , Neoplasias Cutáneas , Humanos , Masculino , Antígenos de Neoplasias , Diagnóstico Diferencial , Síndrome del Nevo Displásico/patología , Inmunohistoquímica , Melanocitos/patología , Melanoma/diagnóstico , Melanoma/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Factores de Transcripción , FemeninoRESUMEN
BACKGROUND: Some dysplastic nevi, termed sclerosing nevi with pseudomelanomatous features, may have florid fibroplasia associated with features that cause melanoma to be a prominent consideration in the differential diagnosis. PRAME (PReferentially expressed Antigen in MElanoma) immunohistochemistry (IHC) has been shown to be a useful marker in the distinction of melanoma and nevus. PRAME expression in such sclerosing nevi with pseudomelanomatous features has not been evaluated to our knowledge. METHODS: Thirty-two sclerosing nevi with pseudomelanomatous features were stained with PRAME IHC, with positive labeling defined as staining of >75% of the cytomorphologically atypical lesional cells. RESULTS: All 32 cases had variable cytologic atypia, bridging of elongated rete, fibroplasia, and a vertically oriented trizonal appearance. Some cases (23/32) had centrally located flattening of the rete ridge pattern bilaterally flanked by fibroplasia associated with elongated rete. PRAME labeling was negative (<1% labeling) in 28/32 cases. Four cases, also interpreted as having negative labeling with PRAME, showed only weak nuclear positivity of <50% of the melanocytes within the pseudomelanomatous foci. p16 staining was positive in 28/28 lesions. CONCLUSIONS: Rare sclerosing nevi with pseudomelanomatous features (4/32; ~13%) had weak PRAME labeling of 25%-50% of atypical foci. Twenty-eight of 32 lesions had virtually no labeling with PRAME. PRAME results support classifying sclerosing nevi with pseudomelanomatous features as indolent lesions.
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Acral dermatoses, including hyperkeratotic palmoplantar eczema (HPE), palmoplantar psoriasis (PP), and mycosis fungoides palmaris et plantaris (MFPP), can be challenging to diagnose clinically and histopathologically. In this setting, cytokine biomarkers may be able to help provide diagnostic clarity. Therefore, we evaluated IL-17A, IFN-γ, and IL-13 expression in PP, HPE, and MFPP and compared their expression profiles with nonacral sites. We used biopsy specimens from the Yale Dermatopathology database, selecting cases of HPE (n = 12), PP (n = 8), MFPP (n = 8), normal acral skin (n = 9), nonacral eczema (n = 10), and nonacral psoriasis (n = 10) with classic clinical and histopathologic features. IL17A mRNA expression by RNA in situ hybridization differentiated PP (median score 63.1 [interquartile range 9.4-104.1]) from HPE (0.8 [0-6.0]; P = 0.003), MFPP (0.6 [0-2.6]; P = 0.003), and normal acral skin (0 [0-0]; P < 0.001). Unexpectedly, both PP and HPE showed co-expression of IFNG and IL13 mRNA. In contrast, nonacral psoriasis and eczema showed divergent patterns of IFNG and IL13 mRNA expression. Taken together, we show that IL17A mRNA expression may be a useful biomarker of PP, and we further show that acral dermatoses exhibit distinct immunology compared to nonacral sites, with implications for clinical management.
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This case report describes a woman in her 40s with a medical history of systemic lupus erythematosus with 1 year of tender papules, plaques, and progressive ulcers on her hands and feet.
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Lupus Eritematoso Sistémico , Vasculitis , Humanos , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/tratamiento farmacológico , Vasculitis/tratamiento farmacológico , Vasculitis/etiologíaRESUMEN
Cognitive bias refers to human thinking patterns, as well as pitfalls, that are reproducible. Importantly, cognitive bias is not intentionally discriminatory and is necessary to properly interpret the world around us, including microscopic slides. Thus, it is a useful exercise to examine cognitive bias in pathology, as exemplified in dermatopathology.
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Cognición , Humanos , SesgoRESUMEN
Squamous carcinogenesis is incompletely understood, but more recent genetic studies support that the order of acquired mutations is important. This paper will review more recent genetic studies with an emphasis on the potential truncal mutations, mutations critical to the trunk of the cancer evolutionary tree, in actinic keratosis, squamous cell carcinoma in situ, cutaneous squamous cell carcinoma, keratoacanthoma, and keratoacanthoma-like squamous proliferation.
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Acrospiroma , Adenoma de las Glándulas Sudoríparas , Carcinoma de Apéndice Cutáneo , Neoplasias Cutáneas , Neoplasias de las Glándulas Sudoríparas , Humanos , Estados Unidos/epidemiología , Acrospiroma/epidemiología , Acrospiroma/complicaciones , Acrospiroma/patología , Incidencia , Pronóstico , Neoplasias de las Glándulas Sudoríparas/epidemiología , Neoplasias de las Glándulas Sudoríparas/patología , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/complicaciones , Adenoma de las Glándulas Sudoríparas/complicaciones , Adenoma de las Glándulas Sudoríparas/patologíaRESUMEN
Background: Chronic dermatologic disorders can cause significant emotional distress. Sentiment analysis of disease-related tweets helps identify patients' experiences of skin disease. Objective: To analyze the expressed sentiments in tweets related to alopecia areata (AA), hidradenitis suppurativa (HS), and psoriasis (PsO) in comparison to fibromyalgia (FM). Methods: This is a cross-sectional analysis of Twitter users' expressed sentiment on AA, HS, PsO, and FM. Tweets related to the diseases of interest were identified with keywords and hashtags for one month (April, 2022) using the Twitter standard application programming interface (API). Text, account types, and numbers of retweets and likes were collected. The sentiment analysis was performed by the R "tidytext" package using the AFINN lexicon. Results: A total of 1,505 tweets were randomly extracted, of which 243 (16.15%) referred to AA, 186 (12.36%) to HS, 510 (33.89%) to PsO, and 566 (37.61%) to FM. The mean sentiment score was -0.239 ± 2.90. AA, HS, and PsO had similar sentiment scores (p = 0.482). Although all skin conditions were associated with a negative polarity, their average was significantly less negative than FM (p < 0.0001). Tweets from private accounts were more negative, especially for AA (p = 0.0082). Words reflecting patients' psychological states varied in different diseases. "Anxiety" was observed in posts on AA and FM but not posts on HS and PsO, while "crying" was frequently used in posts on HS. There was no definite correlation between the sentiment score and the number of retweets or likes, although negative AA tweets from public accounts received more retweets (p = 0.03511) and likes (p = 0.0228). Conclusion: The use of Twitter sentiment analysis is a promising method to document patients' experience of skin diseases, which may improve patient care through bridging misconceptions and knowledge gaps between patients and healthcare professionals.
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Leukoderma, or hypomelanosis of the skin, can occur in response to various chemical and pharmacologic substances ranging from topical medications to optic preparations and systemic medications. In this case report, we present a 78-year-old man with a history of restless leg syndrome (RLS) who had been using rotigotine transdermal patches once daily for 1 year and developed leukoderma on the bilateral anterior shoulders in the area of patch application. Histopathologic examination showed an absence of melanocytes at the dermal-epidermal junction confirmed by Melan A stain. While the patient was not bothered by the depigmentation and elected to continue the rotigotine patch for his RLS, this case highlights leukoderma as a potential side effect of dopamine transdermal patches and offers insight into the potential mechanism of hypopigmentation in response to dopamine agonism.
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Basaloid follicular hamartomas (BFH) are benign small basaloid skin tumors that can present as solitary or multiple lesions. Congenital BFH lesions arranged in a segmental distribution have been described, suggesting they derive from a somatic post-zygotic mutational event. Previously, BFH were described in Happle-Tinschert syndrome, which results from a post-zygotic SMO variant and is characterized by segmental BFH with variable involvement of the teeth, skeleton, and central nervous system. Here, we describe two patients with isolated segmental BFH and no systemic involvement. Paired whole exome sequencing of BFH and normal tissue revealed a pathogenic SMO c.1234 C>T, p.L412F variant restricted to BFH tissue. We characterized the proliferation index and expression of Hedgehog and Wnt/beta-catenin pathway related proteins in segmental BFH compared to sporadic basal cell carcinomas (BCCs) and found that segmental BFH had a lower proliferation index. Although segmental BFH expressed a similar level of Gli-1 compared to BCCs, levels of LEF-1 and SOX-9 expression in BFH were weaker for both and patchier for LEF-1. Our results show that a somatic SMO activating variant causes segmental BFH. Since these patients are prone to developing BCCs, differences in SOX9, LEF1, and Ki-67 expression can help distinguish between these two basaloid lesions.
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Carcinoma Basocelular , Hamartoma , Enfermedades de la Piel , Neoplasias Cutáneas , Humanos , Folículo Piloso/anomalías , Folículo Piloso/metabolismo , Folículo Piloso/patología , Proteínas Hedgehog/genética , Proteínas Hedgehog/metabolismo , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/genética , Carcinoma Basocelular/metabolismo , Hamartoma/diagnóstico , Hamartoma/genética , Hamartoma/metabolismo , Enfermedades de la Piel/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/metabolismo , Receptor Smoothened/genéticaRESUMEN
Purpose of Review: Neutrophilic dermatoses are defined by the presence of a sterile neutrophilic infiltrate on histopathology. This review focuses on the pathogenesis, epidemiology, clinicopathological features, diagnosis, and management of four disorders: Sweet syndrome, pyoderma gangrenosum, Behçet syndrome, and neutrophilic eccrine hidradenitis. Recent Findings: Recent studies have provided insight into the complex pathogenesis of neutrophilic dermatoses. Evidence supports an intricate interplay of abnormal neutrophil function and inflammasome activation, malignant transformation into dermal infiltrating neutrophils, and genetic predisposition. Summary: Neutrophilic dermatoses have diverse cutaneous and extracutaneous manifestations and may be associated with significant morbidity and mortality. Common underlying associations include infectious, inflammatory, and neoplastic disorders, as well as drug reactions. Emerging diagnostic and therapeutic frameworks identify an expanding role for biologic and targeted anti-inflammatory therapies.