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Enfermedad Injerto contra Huésped , Estrías de Distensión , Humanos , Enfermedad Injerto contra Huésped/etiología , Enfermedad Injerto contra Huésped/diagnóstico , Enfermedad Injerto contra Huésped/patología , Estrías de Distensión/patología , Estrías de Distensión/etiología , Enfermedad Crónica , Masculino , Femenino , AdultoRESUMEN
Calcific uremic arteriolopathy (CUA) is a severely morbid disease, affecting mostly dialyzed end-stage renal disease (ESRD) patients, associated with calcium deposits in the skin. Calcifications have been identified in ESRD patients without CUA, indicating that their presence is not specific to the disease. The objective of this retrospective multicenter study was to compare elastic fiber structure and skin calcifications in ESRD patients with CUA to those without CUA using innovative structural techniques. Fourteen ESRD patients with CUA were compared to 12 ESRD patients without CUA. Analyses of elastic fiber structure and skin calcifications using multiphoton microscopy followed by machine-learning analysis and field-emission scanning electron microscopy coupled with energy dispersive X-ray were performed. Elastic fibers specifically appeared fragmented in CUA. Quantitative analyses of multiphoton images showed that they were significantly straighter in ESRD patients with CUA than without CUA. Interstitial and vascular calcifications were observed in both groups of ESRD patients, but vascular calcifications specifically appeared massive and circumferential in CUA. Unlike interstitial calcifications, massive circumferential vascular calcifications and elastic fibers straightening appeared specific to CUA. The origins of such specific elastic fiber's alteration are still to be explored and may involve relationships with ischemic vascular or inflammatory processes.
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Calcifilaxia , Fallo Renal Crónico , Calcificación Vascular , Humanos , Tejido Elástico , Fallo Renal Crónico/complicaciones , Márgenes de Escisión , Microscopía Electrónica de RastreoRESUMEN
Mucous membrane pemphigoid is a rare autoimmune blistering disease characterized by post-bullous erosion of mucous membranes. Herein, we present a case of a nonagenarian man who was referred to our department of dermatology presenting with painful erosion of the buccal mucosa. Physical examination revealed palate erosion associated with erosion of the buccal mucosa. A diagnosis of mucous membrane pemphigoid was confirmed, and the patient was successfully treated with topical corticosteroids.
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Introduction: We describe a series of patients whose auto-immune bullous skin disease (AIBD) of the dermal-epidermal junction (DEJ) was characterized by clinical, immunological and ultrastructural features intermediate between bullous pemphigoid (BP) and mucous membrane pemphigoid (MMP), and a recalcitrant course. Patients and Methods: From the database of the French reference centre for AIBD, we screened all the patients who were referred for an AIBD of the DEJ with a mucosal involvement, who neither met the diagnostic criteria for the diagnosis of BP, nor were typical of MMP. Sera were analysed by NC16A-ELISA and immunobloting against the C-terminal and LAD-1 parts of BP180. Skin biopsies were studied by direct immunoelectron microscopy (IEM). Results: Fifteen patients (4 males, 11 females) of mean age 70.8 ± 11.8 years were included. The mucosal involvement was localized in oral cavity in all cases and in pharyngeal/laryngeal or genital area in 8 (53%), and 6 patients (40%), respectively. No patient had ocular involvement, nor atrophic or fibrosing scars. All patients had extensive skin lesions (mean BPDAI score =65.9 ± 24.4), which predominated on the upper body part. Direct IEM performed on 8 patients showed IgG deposits on the lamina lucida in all cases, and the lamina densa in 5 cases. All sera recognized NC16A, while none recognized BP-230 in ELISA. 10 out of the 13 tested sera (76.9%) contained IgG which recognized the C-terminal domain of BP180 and 10 sera (76.9%) the LAD-1 domain of BP180. Patients poorly responded to super potent topical corticosteroids and were treated with oral corticosteroids ± immunosuppressant in 13 cases (86.6%). Conclusion: This mixed muco-cutaneous pemphigoid differs from BP by the younger age of patients, multiple mucosae involvement, circulating antibodies against both the C- and N-terminal part of BP180, and very poor response to topical CS. It differs from MMP by extensive inflammatory skin lesions, absence of ocular involvement and atrophic/fibrosing scars.
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Penfigoide Ampolloso , Masculino , Femenino , Humanos , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Penfigoide Ampolloso/diagnóstico , Penfigoide Ampolloso/tratamiento farmacológico , Cicatriz/patología , Colágenos no Fibrilares , Piel/patología , Inmunoglobulina GRESUMEN
Immune checkpoint inhibitors (ICIs) have become the standard treatment for many types of cancer. After several years of using these therapies, many adverse events related to ICIs have been observed. Dermatologic toxicities such as nonspecific morbilliform rash, vitiligo, Stevens-Johnson syndrome/toxic epidermal necrolysis, and more rarely, lichenoid eruptions have been described in the literature. We report 2 cases of pustular lichenoid eruptions, 1 in a patient with nonsmall cell lung carcinoma and 1 in a patient with metastatic melanoma, induced by pembrolizumab and nivolumab, respectively. The 2 patients were treated with topical corticosteroids, and complete healing of lesions was slowly obtained. Due to the severity of the cutaneous eruptions, pembrolizumab and nivolumab were discontinued. We identified 6 cases of pustular lichenoid eruptions induced by ICIs in the published literature and in the French Pharmacovigilance Database and reviewed their main clinical features and courses.
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Exantema , Erupciones Liquenoides , Neoplasias Pulmonares , Melanoma , Humanos , Nivolumab/efectos adversos , Inhibidores de Puntos de Control Inmunológico/efectos adversos , Melanoma/tratamiento farmacológico , Erupciones Liquenoides/etiología , Erupciones Liquenoides/inducido químicamente , Exantema/inducido químicamente , Neoplasias Pulmonares/tratamiento farmacológicoRESUMEN
Eccrine syringofibroadenoma (ESFA) is a rare adnexal tumor deriving from the acrosyringeal portion of the eccrine duct. Five subtypes of ESFA were described including a reactive form. Reactive ESFAs are associated with inflammatory and neoplastic dermatoses. In this article, we report the case of a 90-year-old woman presenting with 3 leg ulcers evolving for 2 years surrounded by large verrucous and eczematous lesions. Multiple skin biopsies showed anastomosing epithelial cords connected to the epidermis consistent with ESFA. We identified 8 cases of ESFA associated with chronic leg ulcers in the literature and reviewed their main clinical and histological features.
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Adenoma de las Glándulas Sudoríparas , Úlcera de la Pierna , Neoplasias Cutáneas , Neoplasias de las Glándulas Sudoríparas , Úlcera Varicosa , Femenino , Humanos , Anciano de 80 o más Años , Adenoma de las Glándulas Sudoríparas/complicaciones , Adenoma de las Glándulas Sudoríparas/patología , Neoplasias de las Glándulas Sudoríparas/complicaciones , Neoplasias de las Glándulas Sudoríparas/diagnóstico , Neoplasias de las Glándulas Sudoríparas/patología , Piel/patología , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Úlcera Varicosa/patología , Úlcera de la Pierna/patología , Glándulas Ecrinas/patologíaAsunto(s)
Linfoma Cutáneo de Células T , Micosis Fungoide , Neoplasias Cutáneas , Humanos , Linfoma Cutáneo de Células T/diagnóstico , Linfoma Cutáneo de Células T/terapia , Linfoma Cutáneo de Células T/patología , Micosis Fungoide/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/terapia , Neoplasias Cutáneas/patología , Piel/patología , PronósticoRESUMEN
PURPOSE: To prospectively assess the impact of expert pathological review of skin adnexal carcinoma diagnosis in France. METHODS: From 2014 to 2019, 2573 samples from patients with newly diagnosed or suspected skin adnexal carcinomas were reviewed prospectively by expert pathologists through the national CARADERM (CAncers RAres DERMatologiques) network. Changes in diagnosis between referral and expert review were analysed regarding their potential impact on patient care or prognosis. RESULTS: The samples comprised 2205 newly diagnosed adnexal carcinomas, 129 benign adnexal tumours, 136 basal cell carcinomas, 74 squamous cell carcinomas, six cutaneous metastases and 13 other malignancies. There were 930 (42%) sweat gland carcinomas, of which porocarcinoma (261; 11.8%), microcystic adnexal carcinoma (125; 5.7%) and hidradenocarcinoma (109; 4.9%) were the most frequent subtypes; 778 (35%) hair follicle carcinomas, 238 (11%) sebaceous carcinomas and 212 (10%) extramammary Paget diseases/mammary-like anogenital gland adenocarcinomas. A diagnostic change between referral and expert review occurred in 503 (21.3%) patients, significantly higher for cases sent with a provisional diagnosis seeking an expert second opinion (45.7%) than for cases sent with a formal diagnosis (2.8%) (p < .0001). Sweat gland carcinomas were more prone to diagnostic discrepancies than other tumours (p < .0001), including 1.8% of patients with sweat gland carcinoma subtype misclassification with predicted clinical impact. Changes between benign and malignant conditions occurred in 117 samples (5% of patients). CONCLUSION: The study provides a unique description of the distribution of skin adnexal carcinomas and highlights the importance of expert review for these rare cancers. Optimal clinical management was impacted in a significant proportion of patients.
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Carcinoma , Neoplasias de Anexos y Apéndices de Piel , Neoplasias de las Glándulas Sebáceas , Neoplasias Cutáneas , Neoplasias de las Glándulas Sudoríparas , Humanos , Neoplasias de Anexos y Apéndices de Piel/diagnóstico , Neoplasias de las Glándulas Sebáceas/diagnóstico , Neoplasias de las Glándulas Sebáceas/patología , Piel/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/patología , Neoplasias de las Glándulas Sudoríparas/patologíaAsunto(s)
Pustulosis Exantematosa Generalizada Aguda/etiología , Antifúngicos/efectos adversos , Candidiasis Bucal/tratamiento farmacológico , Síndrome de Hipersensibilidad a Medicamentos/etiología , Miconazol/efectos adversos , Administración Oral , Antifúngicos/administración & dosificación , Femenino , Humanos , Miconazol/administración & dosificación , Persona de Mediana EdadRESUMEN
ABSTRACT: A 56-year-old woman, with history of psoriasis well controlled on ustekinumab, underwent 18F-FDG PET/CT to explore first onset of histologically proven skin panniculitis of unknown origin. PET/CT showed high uptake in panniculitis lesions in limbs and in a lung opacity suggestive of pneumonia. Based on PET/CT findings, a bronchoalveolar lavage revealed pulmonary coinfection by Pneumocystis jirovecii and Cryptococcus neoformans. Thus, hematogenous dissemination of infection was suspected as etiology of panniculitis. She was treated with fluconazole and trimethoprim-sulfamethoxazole, leading to total resolution of skin lesions. Posttherapeutic PET/CT showed complete metabolic response of skin and pulmonary lesions.
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Coinfección/diagnóstico por imagen , Criptococosis/diagnóstico por imagen , Cryptococcus neoformans/fisiología , Pneumocystis carinii/fisiología , Neumonía por Pneumocystis/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Coinfección/terapia , Criptococosis/terapia , Femenino , Fluorodesoxiglucosa F18 , Humanos , Persona de Mediana Edad , Infecciones Oportunistas/diagnóstico por imagen , Infecciones Oportunistas/terapia , Neumonía por Pneumocystis/terapia , Resultado del TratamientoRESUMEN
Primary cutaneous EBV-positive diffuse large B-cell lymphoma is an exceptional and aggressive neoplasia with a poorer prognosis than other cutaneous lymphoma. Our observation points out the rarity of the presentation and the dismal clinical course.
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INTRODUCTION: Non endometrioid endometrial cancer are infrequent and have poor prognosis. The aim of the study was to evaluate non endometrioid endometrial cancer managment by evaluating endometrial cancer guidelines application. MATERIAL AND METHODS: This multicentric retrospective study enrolled non endometrioid endometrial cancer between January 2009 to December 2019. Analyses adapted at last French guidelines applicated corresponding of year management. RESULTS: Seventy-four non endometrioid endometrial cancer analysed in 10 centers: 34 carcinosarcoma (45,9 %), 29 serous carcinoma (39,2 %), 9 clear cells carcinoma (12,2 %) and 2 undifferentiated carcinoma (2,7 %). For initial management, endometrial cancer guidelines applicated to 45,9 %. First reason of initial guidelines « non-application ¼ was lack of surgical lymph node stadification (57,1 %). For adjuvant management, endometrial cancer guidelines applicated to 38.7 %. First reason of adjuvant guidelines « non-application ¼ was lack lymph node stadification to complete staging when it previously incompletly operated (67,6 %). DISCUSSION: Non endometrioid endometrial cancer guidelines applicability is difficult. This explicated by high age and comorbidity when surgical lymph node stadification is necessary. Using new staging technic will allow target management and better select lymph node staging indication.
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Adenocarcinoma de Células Claras , Carcinosarcoma , Cistadenocarcinoma Seroso , Neoplasias Endometriales , Adhesión a Directriz , Adenocarcinoma de Células Claras/complicaciones , Adenocarcinoma de Células Claras/diagnóstico , Adenocarcinoma de Células Claras/patología , Adenocarcinoma de Células Claras/terapia , Anciano , Anciano de 80 o más Años , Carcinosarcoma/complicaciones , Carcinosarcoma/diagnóstico , Carcinosarcoma/patología , Carcinosarcoma/terapia , Cistadenocarcinoma Seroso/complicaciones , Cistadenocarcinoma Seroso/diagnóstico , Cistadenocarcinoma Seroso/patología , Cistadenocarcinoma Seroso/terapia , Neoplasias Endometriales/complicaciones , Neoplasias Endometriales/diagnóstico , Neoplasias Endometriales/patología , Neoplasias Endometriales/terapia , Femenino , Francia , Humanos , Metrorragia/etiología , Persona de Mediana Edad , Siembra Neoplásica , Guías de Práctica Clínica como Asunto , Pronóstico , Estudios RetrospectivosRESUMEN
Importance: Calcific uremic arteriolopathy (CUA), a rare, potentially fatal, disease with calcium deposits in skin, mostly affects patients with end-stage renal disease who are receiving dialysis. Chemical composition and structure of CUA calcifications have been poorly described. Objectives: To describe the localization and morphologic features and determine the precise chemical composition of CUA-related calcium deposits in skin, and identify any mortality-associated factors. Design, Setting, and Participants: A retrospective, multicenter cohort study was conducted at 7 French hospitals including consecutive adults diagnosed with CUA between January 1, 2006, and January 1, 2017, confirmed according to Hayashi clinical and histologic criteria. Patients with normal renal function were excluded. For comparison, 5 skin samples from patients with arteriolosclerosis and 5 others from the negative margins of skin-carcinoma resection specimens were also analyzed. Main Outcomes and Measures: Localization and morphologic features of the CUA-related cutaneous calcium deposits were assessed with optical microscopy and field-emission-scanning electron microscopy, and the chemical compositions of those deposits were evaluated with µ Fourier transform infrared spectroscopy, Raman spectroscopy, and energy dispersive radiographs. Results: Thirty-six patients (median [range] age, 64 [33-89] years; 26 [72%] female) were included, and 29 cutaneous biopsies were analyzed. Calcific uremic arteriolopathy and arteriolosclerosis skin calcifications were composed of pure calcium-phosphate apatite. Calcific uremic arteriolopathy vascular calcifications were always circumferential, found in small to medium-sized vessels, with interstitial deposits in 22 (76%) of the samples. A thrombosis, most often in noncalcified capillary lumens in the superficial dermis, was seen in 5 samples from patients with CUA. Except for calcium deposits, the vessel structure of patients with CUA appeared normal, unlike thickened arteriolosclerotic vessel walls. Twelve (33%) patients died of CUA. Conclusions and Relevance: Calcific uremic arteriolopathy-related skin calcifications were exclusively composed of pure calcium-phosphate apatite, localized circumferentially in small to medium-sized vessels and often associated with interstitial deposits, suggesting its pathogenesis differs from that of arteriolosclerosis. Although the chemical compositions of CUA and arteriolosclerosis calcifications were similar, the vessels' appearances and deposit localizations differed, suggesting different pathogenetic mechanisms.
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Calcifilaxia/fisiopatología , Piel/patología , Calcificación Vascular/patología , Adulto , Anciano , Anciano de 80 o más Años , Biopsia , Calcifilaxia/diagnóstico , Calcifilaxia/etiología , Estudios de Cohortes , Femenino , Humanos , Fallo Renal Crónico/complicaciones , Fallo Renal Crónico/terapia , Masculino , Microscopía , Microscopía Electrónica de Rastreo , Persona de Mediana Edad , Diálisis Renal/métodos , Estudios RetrospectivosRESUMEN
To determine whether the mutational profile of primary cutaneous diffuse large B-cell lymphoma, leg type (PCLBCL-LT) is unique by comparison with other diffuse large B-cell lymphoma subtypes, we analyzed a total cohort of 20 PCLBCL-LT patients by using next-generation sequencing with a lymphoma panel designed for diffuse large B-cell lymphoma. We also analyzed 12 pairs of tumor and control DNA samples by whole-exome sequencing, which led us to perform resequencing of three selected genes not included in the lymphoma panel: TBL1XR1, KLHL6, and IKZF3. Our study clearly identifies an original mutational landscape of PCLBCL-LT with a very restricted set of highly recurrent mutations (>40%) involving MYD88 (p.L265P variant), PIM1, and CD79B. Other genes involved in B-cell signaling, NF-κB activation, or DNA modeling were found altered, notably TBL1XR1 (33%), MYC (26%) CREBBP (26%), and IRF4 (21%) or HIST1H1E (41%). MYD88L265P variant was associated with copy number variations or copy neutral loss of heterozygosity in 60% of patients. The most frequent genetic losses involved CDKN2A/2B, TNFAIP3/A20, PRDM1, TCF3, and CIITA. Together, these results show that PCLBCL-LT exhibits a unique mutational landscape, combining highly recurrent hotspot mutations in genes involved in NF-kB and B-cell signaling pathways, which provides a rationale for using selective inhibitors of the B-cell receptor.
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Variaciones en el Número de Copia de ADN , Regulación Neoplásica de la Expresión Génica , Linfoma de Células B Grandes Difuso/genética , Factor 88 de Diferenciación Mieloide/genética , Neoplasias Cutáneas/genética , Anciano , Anciano de 80 o más Años , Estudios de Cohortes , Femenino , Estudios de Asociación Genética , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Pierna , Linfoma de Células B Grandes Difuso/patología , Masculino , Persona de Mediana Edad , Mutación , Neoplasias Cutáneas/patologíaAsunto(s)
Nevo Pigmentado/patología , Neoplasias Cutáneas/patología , Adulto , Dorso , Dermoscopía , Femenino , Humanos , Microscopía por VideoRESUMEN
Blastic plasmacytoid dendritic cell neoplasm is a rare clinicopathologic entity, characterized by strong skin tropism and a poor prognosis. The diagnosis is generally made by skin biopsy with appropriate immunohistochemical studies. To identify potential biological prognostic factors for blastic plasmacytoid dendritic cell neoplasm, we performed an extended clinico-immunohistochemical study on a series of 91 well-documented cases collected since 1995 by the French Study Group on Cutaneous Lymphomas. Skin biopsies were analyzed using a panel of 12 immunohistochemical markers (CD4, CD56, CD123, CD303, TCL1, CD68, CD2, CD7, TdT, Ki-67, S100, and MX-1). The results were correlated with survival. The 5 most characteristic markers of this entity (CD4, CD56, CD123, CD303, and TCL1) were expressed simultaneously in only 46% of patients. However, when 4 markers were expressed the diagnosis could still be reliably made without resorting to any additional stains. Expression of TdT and/or S100 correlated with varying degrees of maturation. Statistical survival analyses showed that CD303 expression and high proliferative index (Ki-67) were significantly associated with longer survival.
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Biomarcadores de Tumor/análisis , Células Dendríticas/patología , Neoplasias Hematológicas/metabolismo , Neoplasias Cutáneas/metabolismo , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Células Dendríticas/metabolismo , Femenino , Neoplasias Hematológicas/mortalidad , Neoplasias Hematológicas/patología , Humanos , Inmunohistoquímica , Estimación de Kaplan-Meier , Masculino , Persona de Mediana Edad , Neoplasias Cutáneas/mortalidad , Neoplasias Cutáneas/patología , Adulto JovenRESUMEN
Boceprevir and telaprevir are 2 specific inhibitors of the hepatitis C (HCV) serine protease 3. Cutaneous side effects have been reported with high frequency, essentially rash, and dry skin. We report a case of drug rash with eosinophilia and systemic symptoms (DRESS) due to boceprevir. A 56-year-old African woman with chronic hepatitis C complicated with cirrhosis and cryoglobulinemia received pegylated interferon alfa-2a (PegIFN) and ribavirin (RBV) for 4 weeks and then boceprevir was added. She was also co-infected with HIV state A2. Eight weeks after adding boceprevir she developed a generalized maculopapular exanthema with fever, facial oedema, apparition of lymph node and alteration of the general state. She presented an eosinophilia (up to 3.0 × 10(9)cells/L), no biological inflammatory syndrome. The computed tomography revealed several lymph nodes located in the abdominal and inguinal areas. The cutaneous biopsy was consistent with a drug rash reaction. The HCV treatment was stopped and the patient was treated with topical steroids. Cutaneous and systemic symptoms disappeared in few weeks. Boceprevir was considered the culprit drug. We report to our knowledge the first case of DRESS due to boceprevir.