RESUMO
BACKGROUND: Despite the integral contribution of dermatopathologists in diagnosing skin lesions, their role often remains unclear to patients, likely due to little face-to-face interaction. More healthcare systems have begun introducing patient-pathologist consultation programs that allow patients to discuss results with a pathologist and view tissue under a microscope. To our knowledge, only one study has been published exploring patient perspectives of these programs and no studies exist regarding interest in dermatopathology. METHODS: An anonymous survey was distributed via online support groups for various dermatologic diagnoses. RESULTS: Patients demonstrated a high level of interest in the dermatopathologist-patient consultation program, with 81.3% expressing at least moderate interest in discussing their diagnosis with a dermatopathologist and 79.2% expressing at least moderate interest in examining their tissue under the microscope with a dermatopathologist. The rationale for interest included various themes: (1) knowledge/understanding, (2) empowerment, (3) emotional support, (4) general interest, and (5) improved trust. CONCLUSIONS: Patients with cancerous and non-cancerous dermatologic diagnoses demonstrate high interest in a dermatopathologist-patient consultation program. Efforts to pilot this type of program can build upon the infrastructure of current pathologist consultation programs. Future efforts should be taken by hospital leadership, clinicians, and dermatopathologists to determine physician interest and address logistical challenges to the implementation of these programs.
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Becker nevus (BN) is a benign cutaneous smooth muscle hamartoma that presents with a hyperpigmented patch or plaque with or without hypertrichosis.1 BN may be associated with ipsilateral breast hypoplasia or other musculoskeletal abnormalities, an association which has been termed Becker nevus syndrome (BNS).
Assuntos
Hiperpigmentação , Nevo , Neoplasias Cutâneas , Mama/anormalidades , Humanos , Hiperpigmentação/diagnóstico , Hiperpigmentação/tratamento farmacológico , Nevo/complicações , Nevo/diagnóstico , Nevo/tratamento farmacológico , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/tratamento farmacológico , EspironolactonaRESUMO
Chronic wounds are a common and debilitating condition associated with aging populations that impact more than 6.5 million patients in the United States. We have previously demonstrated the efficacy of daily topical 1% valsartan in treating wounds in diabetic mouse and pig models. Despite these promising results, there remains a need to develop an extended-release formulation that would reduce patient burden by decreasing the frequency of daily applications. Here, we used nanotechnology to self-assemble valsartan amphiphiles into a filamentous structure (val-filaments) that would serve as a scaffold in wound beds and allow for steady, localised and tunable release of valsartan amphiphiles over 24 days. Two topical treatments of this peptide-based hydrogel on full-thickness wounds in Zucker Diabetic Fatty rats resulted in faster rates of wound closure. By day 23, all val-filament treated wounds were completely closed, as compared to one wound closed in the placebo group. Mechanistically, we observed enrichment of proteins involved in cell adhesion and energetics pathways, downregulation of Tgf-ß signalling pathway mediators (pSmad2, pSmad3 and Smad4) and increased mitochondrial metabolic pathway intermediates. This study demonstrates the successful synthesis of a sustained-release valsartan filament hydrogel, its impact on mitochondrial energetics and efficacy in treating diabetic wounds.
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Diabetes Mellitus , Cicatrização , Animais , Humanos , Hidrogéis , Ratos , Ratos Zucker , Valsartana/farmacologiaRESUMO
BACKGROUND: Epithelioid fibrous histiocytoma (EFH) is an uncommon dermal neoplasm expressing anaplastic lymphoma kinase (ALK) protein. Rarely a histopathological variant of this entity exhibits exclusively spindle cells. We report three cases of EFH that do not completely fulfill phenotypic criteria featuring spindle cell morphology and expressing ALK protein. We also analyze the fusion partner genes rearranged with ALK in these cases. METHODS: ALK expression and rearrangement status were evaluated by immunohistochemistry (IHC), fluorescence in situ hybridization (FISH), and next generation sequencing based gene fusion analysis. RESULTS: Three cases, all from females between 25 and 55 years old, have been biopsied from back, left arm, and thumb. All three cases showed tumor with exclusively spindle cell morphology without any epithelioid cells. The tumor cells exhibited strong ALK expression by IHC and FISH study confirmed ALK gene rearrangement in all three cases. DCTN1-ALK fusion was identified in two cases. CONCLUSION: EFH is not always purely epithelioid and its spindled cell variant, spindle cell histiocytoma, should be included in the differential diagnosis of superficial dermal spindled cell neoplasms. ALK immunostain is a useful diagnostic marker for this entity and further studies may be useful to investigate whether DCTN1-ALK fusion mutations are specific to EFH with spindled cell features.
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Quinase do Linfoma Anaplásico/genética , Células Epitelioides/patologia , Histiocitoma Fibroso Benigno/genética , Histiocitoma/genética , Adulto , Biomarcadores Tumorais/metabolismo , Biópsia , Diagnóstico Diferencial , Complexo Dinactina/genética , Feminino , Fusão Gênica/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Histiocitoma/diagnóstico , Histiocitoma/ultraestrutura , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/ultraestrutura , Humanos , Imuno-Histoquímica/métodos , Hibridização in Situ Fluorescente/métodos , Pessoa de Meia-Idade , Neoplasias de Tecido Fibroso/patologiaRESUMO
Cutaneous melanomas may demonstrate a variety of histopathological features and genetic abnormalities. Melanomas that arise in the setting of blue nevi, also known as "malignant blue nevus" or melanoma ex blue nevus (MBN), share a similar histopathological and mutational profile with uveal melanoma. Most uveal melanomas show characteristic GNA11 or GNAQ mutations; additional BAP1 mutation or loss is associated with the highest risk of metastasis and worst prognosis. However, the significance of BAP1 loss in melanomas ex blue nevus remains unclear. We present a case of MBN arising from the scalp of a 21-year-old woman. The diagnosis was established on histopathological findings demonstrating a markedly atypical melanocytic proliferation with increased mitotic activity, necrosis, and a focus of angiolymphatic invasion. Immunohistochemical analysis demonstrated the absence of BAP1 nuclear expression within tumor cells. Next generation sequencing detected GNA11 Q209L mutation and BAP1 loss (chromosome 3p region loss), supporting the diagnosis. We reviewed another 21 MBN cases with reported BAP1 status from the literature. MBN with BAP1 loss presented at a younger average age (41 vs. 61 years), demonstrated larger average lesion thickness (9.0 vs. 7.3 mm), and had a higher rate of metastasis (50% vs. 33%) compared with BAP1-retained MBN. BAP1 expression studies may assist in the diagnosis and management of MBN, but further research is needed.
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Subunidades alfa de Proteínas de Ligação ao GTP/genética , Melanoma/genética , Nevo Azul/patologia , Neoplasias Cutâneas/genética , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética , Feminino , Humanos , Melanoma/patologia , Nevo Azul/genética , Couro Cabeludo/patologia , Neoplasias Cutâneas/patologia , Adulto JovemRESUMO
Persistent Grover's disease can cause significant symptoms of pruritus thereby decreasing quality of life. Many patients undergo successful conservative management of their disease; however, a subset of patients is recalcitrant despite multiple lines of therapy. Accordingly, we present, to our knowledge, the first reported case of recalcitrant Grover's disease treated successfully with radiotherapy. J Drugs Dermatol. 2019;18(4):392-393.
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Acantólise/radioterapia , Elétrons , Ictiose/radioterapia , Acantólise/patologia , Feminino , Humanos , Ictiose/patologia , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Estudos RetrospectivosRESUMO
We report a patient with penile sarcomatoid squamous cell carcinoma (SCC) initially misdiagnosed as condyloma acuminatum. Sarcomatoid SCC is a rare, aggressive, biphasic cancer that often presents a diagnostic challenge and carries a poor prognosis, especially after a delay in diagnosis. Although sarcomatoid SCC may exhibit a broad range of clinical features, the expression of p63 and keratin 34?E12 is a common finding. Our case highlights the importance of accurate clinicopathologic correlation to facilitate a timely diagnosis and management of this rare and highly aggressive malignancy.
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Carcinoma de Células Escamosas/diagnóstico , Condiloma Acuminado/diagnóstico , Neoplasias Penianas/diagnóstico , Idoso , Carcinoma de Células Escamosas/patologia , Erros de Diagnóstico , Evolução Fatal , Humanos , Masculino , Neoplasias Penianas/patologiaRESUMO
While mycosis fungoides (MF) is typically an indolent malignancy, it may infrequently undertake an aggressive course. We used proteomic analyses to identify a biomarker of the aggressive course of MF. Results of this investigation demonstrated that PARP-1, heat-shock protein family A (Hsp70) member 1 like (HSAP1L), Hsp70 member 1A (HSPA1A), ATP-depending RNA helicase (DDX17) and the α-isoform of lamina-associated polypeptide 2 (TMPO) had higher expression in aggressive disease versus non-aggressive. Moreover, PARP-1 was overexpressed in patients with early stage of MF who developed later an aggressive disease. PARP-1 was evaluated as a new target for therapy, demonstrating the selective dose-dependent cytotoxic effect of PARP inhibitors on Sézary cells in comparison with non-malignant lymphocytes. In conclusion, we believe that PARP-1 may serve not only as a biomarker at initial biopsies for a disease that may become aggressive but also as a new therapeutic target of advanced MF and Sézary syndrome.
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Micose Fungoide/diagnóstico , Poli(ADP-Ribose) Polimerase-1/metabolismo , Síndrome de Sézary/diagnóstico , Biomarcadores , Biópsia , Óxidos N-Cíclicos/metabolismo , Progressão da Doença , Proteínas de Choque Térmico HSP70/metabolismo , Humanos , Linfócitos/metabolismo , Micose Fungoide/metabolismo , Estadiamento de Neoplasias , Proteômica , Estudos Retrospectivos , Fatores de Risco , Síndrome de Sézary/metabolismo , Neoplasias Cutâneas/metabolismoRESUMO
BACKGROUND: Digital pathology (DP) systems have been validated for routine, histopathological diagnosis by several investigators. The diagnostic matter in previous studies is composed mostly of neoplasms. However, in dermatopathology, inflammatory diseases constitute a greater proportion of cases and have been under-represented in this literature. Herein, we report the results of a prospective, DP side-by-side validation study comparing the histologic assessment of routine, clinical inflammatory dermatopathology cases by whole slide imaging (WSI) and traditional light microscopy (LM). METHODS: Glass slides were digitized at ×40 magnification. Two dermatopathologists rendered diagnoses digitally and immediately thereafter by light microscopy. Additional recuts, special, and immunohistochemical stains obtained during workup were scanned and evaluated similarly. Morphological features used to make diagnoses and appreciable differences in histology were recorded. RESULTS: A total of 332 slides representing 93 cases were examined, including 157 hematoxylin & eosin sections, 132 special stains, and 43 immunohistochemical slides. In total, 333 microscopic features important for rendering inflammatory diagnoses were identified. Two discrepant instances were noted wherein Gram-positive cocci were identified using traditional microscopy but not by DP (×40 scan). Eosinophils, melanin granules, and mucin were identified on both modalities but were noted to have different appearances. CONCLUSIONS: Our findings indicate that DP is sufficient for primary diagnosis in inflammatory dermatopathology. Higher magnification scanning may be required to identify submicron features, such as microorganisms. Subtle differences in image quality between these 2 modalities may contribute to varied histologic interpretations of which pathologists should be aware when validating clinical DP systems.
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Dermatologia/métodos , Interpretação de Imagem Assistida por Computador/métodos , Patologia Cirúrgica/métodos , Dermatopatias/diagnóstico , Humanos , Inflamação/diagnóstico , Inflamação/etiologiaRESUMO
Cutaneous peripheral T-cell lymphoma, not otherwise specified represents a "waste basket" of all cases that cannot be put into another of the categories of mature cutaneous T-cell lymphoma. Previously, the sudden multifocal development of cutaneous CD4 tumors without preceding a patch or plaque stage was classified as d'emblée form of mycosis fungoides (MF). Currently, the term "MF" reserved only for the classic Alibert-Bazin type characterized by the evolution of patches, plaques, and tumors or for variants showing a similar clinical course. The authors describe a 75-year-old white woman who presented with a solitary skin tumor in the right supraclavicular region, with no lymph node or systemic involvement. Local external beam radiation treatment resulted in a complete response. The patient relapsed after 5 months with new tumors in the left neck and left upper chest. Biopsy of the lesions showed a dermal infiltrate of atypical small- to medium-sized T-lymphocytes, and immunohistochemical staining showed coexpression of CD4/CD8 in a subset of these cells, which was confirmed with flow cytometry of the tumor. Although the patient had no preceding patch or plaque stage, the authors herein report this extremely rare case of CD4/CD8 dual-positive peripheral T-cell lymphoma, not otherwise specified presented as MF d'emblée and discuss the seldom similar cases published previously.
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Linfócitos T CD4-Positivos/patologia , Linfócitos T CD8-Positivos/patologia , Linfoma Cutâneo de Células T/patologia , Micose Fungoide/patologia , Neoplasias Cutâneas/patologia , Idoso , Feminino , Humanos , Linfoma Cutâneo de Células T/imunologia , Micose Fungoide/imunologia , Neoplasias Cutâneas/imunologiaRESUMO
BACKGROUND: Dysplastic nevi with severe atypia (severely dysplastic nevi [SDN]) are frequently re-excised because of the concern that these lesions may in fact represent early melanoma. Data on long-term follow-up of these patients are limited. OBJECTIVE: We sought to determine the rate of subsequent melanoma development in patients with SDN who underwent re-excision versus those who did not and to determine factors associated with decision to re-excise. METHODS: A retrospective single institutional study was conducted with 451 adult patients (mean age 41.3 years) with SDN biopsied between November 1994 and November 2004, with clinical follow-up of at least 5 years. RESULTS: In 451 patients with SDN, re-excision was performed on 36.6%. Two melanomas were diagnosed in the re-excision specimens. Subsequent metastatic melanoma developed in 7 patients, all of whom had a history of melanoma. Margin comments influenced decision to re-excise. LIMITATIONS: This was a retrospective study at a single institution. CONCLUSION: Re-excision of all SDN may not be necessary.
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Síndrome do Nevo Displásico/patologia , Síndrome do Nevo Displásico/cirurgia , Melanoma/patologia , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Transformação Celular Neoplásica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Fatores de Tempo , Adulto JovemRESUMO
Hypopigmented mycosis fungoides (HMF) is the most common variant of mycosis fungoides (MF) in children. Large-cell transformation in HMF has never been reported. Herein we report a case of HMF in an 8-year-old boy who presented with a 6-year history of hypopigmented patches on the bilateral arms, lower back, buttocks, posterior thighs, and lower legs. Biopsy revealed an abnormal CD8+ epidermotropic T-cell infiltrate consistent with the diagnosis of MF. The T-cell clonality study was positive. The patient was started on narrowband ultraviolet B (NBUVB) phototherapy and topical steroids. He had a 50% reduction in his patches after 10 months of treatment, after which he developed a single annular plaque on his left thigh. The biopsy specimen demonstrated large cells that were diffusely CD8+ and CD30- . Clobetasol propionate ointment was prescribed, which led to complete resolution of the plaque within 2 weeks. NBUVB phototherapy was continued and the patient had a complete response within the following 5 months. The case is an example of exceptionally rare large-cell transformation in pediatric MF and stresses the importance of regular follow-up of these patients.
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Hipopigmentação/patologia , Micose Fungoide/patologia , Neoplasias Cutâneas/patologia , Linfócitos T/patologia , Biópsia , Transformação Celular Neoplásica , Criança , Clobetasol/uso terapêutico , Glucocorticoides/uso terapêutico , Humanos , Masculino , Micose Fungoide/terapia , Pele/patologia , Neoplasias Cutâneas/terapia , Terapia Ultravioleta/métodosRESUMO
Nodular cutaneous amyloidosis (NCA), the least common form of primary cutaneous amyloidosis, is characterized clinically by waxy, purpuric plaques and nodules and histologically by amyloid deposits in the dermis and subcutaneous tissue. We present a patient who developed multiple, non-contiguous NCA lesions over a three year period without evidence of systemic disease. We reviewed the literature and found few other cases of this unusual presentation.
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Amiloidose Familiar/patologia , Dermatopatias Genéticas/patologia , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
A 77-year-old white male presented to the clinic with two isolated cutaneous tumors on his forehead. A cutaneous biopsy showed a focally folliculotropic CD4 cutaneous lymphoma. The tumors were irradiated with a complete response, and he was started on oral bexarotene. He experienced localized cutaneous relapse 3 months into treatment. These new tumors now revealed a surprisingly CD8 cytotoxic phenotype, but with the same clone. A systemic workup was negative. His regimen was switched to romidepsin, and he was treated with local radiation again. Another 3.5 months passed in remission until he developed widespread cutaneous tumors. Positron emission tomography/computed tomography revealed multifocal systemic disease involving his diaphragm, liver, distal duodenum, proximal jejunum, anterior chest wall including pectoral muscles, and lungs without significant adenopathy. He died a few days later. Given his full clinical and pathological course, he was given the diagnosis of an aggressive primary cutaneous T-cell lymphoma, unspecified.
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Antineoplásicos/administração & dosagem , Linfócitos T CD4-Positivos/efeitos dos fármacos , Linfócitos T CD8-Positivos/efeitos dos fármacos , Depsipeptídeos/administração & dosagem , Substituição de Medicamentos , Linfoma Cutâneo de Células T/tratamento farmacológico , Neoplasias Cutâneas/tratamento farmacológico , Tetra-Hidronaftalenos/administração & dosagem , Idoso , Bexaroteno , Biomarcadores Tumorais/análise , Biópsia , Linfócitos T CD4-Positivos/imunologia , Linfócitos T CD4-Positivos/patologia , Linfócitos T CD8-Positivos/imunologia , Linfócitos T CD8-Positivos/patologia , Quimiorradioterapia , Progressão da Doença , Evolução Fatal , Humanos , Imuno-Histoquímica , Imunofenotipagem , Linfoma Cutâneo de Células T/imunologia , Linfoma Cutâneo de Células T/patologia , Masculino , Metástase Neoplásica , Fenótipo , Neoplasias Cutâneas/imunologia , Neoplasias Cutâneas/patologia , Resultado do TratamentoRESUMO
Human polyomavirus 7 (HPyV7) is one of 11 HPyVs recently discovered through genomic sequencing technologies. Two lung transplant recipients receiving immunosuppressive therapy developed pruritic, brown plaques on the trunk and extremities showing a distinctive epidermal hyperplasia with virus-laden keratinocytes containing densely packed 36-45-nm icosahedral capsids. Rolling circle amplification and gradient centrifugation testing were positive for encapsidated HPyV7 DNA in skin and peripheral blood specimens from both patients, and HPyV7 early and capsid proteins were abundantly expressed in affected tissues. We describe for the first time that HPyV7 is associated with novel pathogenicity in some immunosuppressed individuals.
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Infecções por Polyomavirus/patologia , Infecções por Polyomavirus/virologia , Polyomavirus/isolamento & purificação , Transplantados , Infecções Tumorais por Vírus/patologia , Infecções Tumorais por Vírus/virologia , Idoso , Sangue/virologia , Exantema/patologia , Exantema/virologia , Histocitoquímica , Humanos , Hospedeiro Imunocomprometido , Imuno-Histoquímica , Masculino , Microscopia Eletrônica de Transmissão , Pele/patologia , Pele/virologia , ViremiaRESUMO
Until 2011, the standard-of-care therapy for patients with hepatitis C consisted of interferon and ribavirin. The recent advent of new targeted therapies against this virus has provided more options of treatment for infected patients. Sofosbuvir, a nucleotide inhibitor of hepatitis C virus (HCV) RNA polymerase, was recently approved by the US Food and Drug Administration in 2013. Various Phase 3 trials with sofosbuvir combination therapy have reported an incidence of rash between 7% and 18%. We here describe a case of sofosbuvir-induced erythrodermic pityriasis rubra pilaris-like drug eruption.
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Antivirais/efeitos adversos , Pitiríase Rubra Pilar/induzido quimicamente , Sofosbuvir/efeitos adversos , Antivirais/uso terapêutico , Toxidermias/etiologia , Toxidermias/patologia , Hepatite C/tratamento farmacológico , Humanos , Masculino , Pessoa de Meia-Idade , Pitiríase Rubra Pilar/patologia , Sofosbuvir/uso terapêuticoRESUMO
Granular cell change in basal cell carcinoma (BCC) occurs rarely. Only 11 such cases have been reported; all of them were solitary nodular BCC. We report herein a case of multiple granular cell BCC with infundibulocystic features. The tumors presented as papules on the anterior neck of a 44-year-old female with a prior history of a well-differentiated squamous cell carcinoma (SCC) of the tongue and radiation involving the area in which BCC developed. Microscopically, the tumors were circumscribed small dermal nodules composed of epithelial cords with granular eosinophilic cytoplasm and entrapped infundibular keratocysts. Given the eosinophilic appearance of the tumor, history of SCC and the lesions multiplicity, the initial biopsy was first interpreted as metastatic SCC. The correct diagnosis of granular cell BCC was established upon rereview of the slides at a cancer center. Given the diagnostic controversy, immunohistochemical stains were performed. The tumor cells expressed Ber-EP4, CD63 (NKI/C3) and CD68. The tumors were compared to the prior SCC finding different morphologies. Extensive clinical evaluation showed no evidence of recurrent SCC. This report expands the clinicopathologic spectrum of granular cell variant of BCC and documents for the first time eruption of multiple such tumors in a localized area.