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BACKGROUND: Mycosis fungoides (MF) has usually an indolent course. However, some patients develop a more aggressive disease and few prognostic parameters have been identified. Isolated cases of pustular MF (pMF) suggest an unfavourable prognosis. OBJECTIVES: We aim to describe the clinico-pathological characteristics and prognostic value of pMF. METHODS: We retrospectively collected data of all cases of MF with histological pustules diagnosed from 2009 to 2020. The outcomes and clinico-pathological characteristics of pMF at diagnosis (pMFD) were compared to those of a cohort of non-pustular MF (NpMF). RESULTS: 33 pMF (including 22 pMFD) and 86 NpMF cases were included. The median age at diagnosis of pMF was 61 years [IQR=50-75]. The median follow-up of pMFD was 32 months [IQR=14-49]. Clinically, 33% of pMF had pustules. Large-cell transformation (LCT) occurred in 17 cases. pMFD were at a significantly more advanced-stage and more showed LCT at diagnosis than NpMF (50% vs 7%, p<0.001 and 23% vs 0%, p<0.001, respectively). In multivariate Cox analysis, the presence of histological pustule at diagnostic was associated with shorter OS in all patients (HR=13.90, CI95%[2.43-79]; p=0.003), and in early-stage patients (HR=11.09, CI95%[1.56-78.82]; p=0.02). In multivariate Fine and Gray model analysis, pMFD was associated with a higher cumulative incidence of LCT (SHR=13.90, CI95% [2.43-79]; p=0.003) in all patients. Median OS after the occurrence of histological pustules during follow-up of all pMF patients was 37 months, with a five-year OS of 25% (CI95% [0.06-0.5]). CONCLUSION: pMF often follows an aggressive course, with a high risk of LCT and shorter survival, even for early-stage patients. Histological pustules at diagnostic of MF might represent an independent poor prognostic factor, to be confirmed by further studies. Because pustules are not always clinically identified, histological pustules should be mentioned in pathology reports of MF and prompt discussion of a closer follow-up.
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Research in normal tissue radiobiology is in continuous progress to assess cellular response following ionizing radiation exposure especially linked to carcinogenesis risk. This was observed among patients with a history of radiotherapy of the scalp for ringworm who developed basal cell carcinoma (BCC). However, the involved mechanisms remain largely undefined. We performed a gene expression analysis of tumor biopsies and blood of radiation-induced BCC and sporadic patients using reverse transcription-quantitative PCR. Differences across groups were assessed by statistical analysis. Bioinformatic analyses were conducted using miRNet. We showed a significant overexpression of the FOXO3a, ATM, P65, TNF-α and PINK1 genes among radiation-induced BCCs compared to BCCs in sporadic patients. ATM expression level was correlated with FOXO3a. Based on receiver-operating characteristic curves, the differentially expressed genes could significantly discriminate between the two groups. Nevertheless, TNF-α and PINK1 blood expression showed no statistical differences between BCC groups. Bioinformatic analysis revealed that the candidate genes may represent putative targets for microRNAs in the skin. Our findings may yield clues as to the molecular mechanism involved in radiation-induced BCC, suggesting that deregulation of ATM-NF-kB signaling and PINK1 gene expression may contribute to BCC radiation carcinogenesis and that the analyzed genes could represent candidate radiation biomarkers associated with radiation-induced BCC.
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Carcinoma Basocelular , Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/metabolismo , NF-kappa B/genética , NF-kappa B/metabolismo , Fator de Necrose Tumoral alfa/metabolismo , Carcinoma Basocelular/genética , Carcinoma Basocelular/metabolismo , Carcinogênese , Proteínas Quinases/metabolismo , Proteínas Mutadas de Ataxia Telangiectasia/genética , Proteínas Mutadas de Ataxia Telangiectasia/metabolismoAssuntos
Psoríase , Vitiligo , Humanos , Anticorpos Monoclonais/efeitos adversos , Anticorpos Monoclonais Humanizados/efeitos adversos , Psoríase/induzido quimicamente , Psoríase/tratamento farmacológico , Índice de Gravidade de Doença , Resultado do Tratamento , Vitiligo/induzido quimicamente , Masculino , AdultoRESUMO
The severe acute respiratory syndrome coronavirus 2 (SARS COV2) had rapidly spread and caused a global pandemic worldwide. The most common symptoms in adults are respiratory with dry cough, dyspnea, and fever. Occasionally, extra-respiratory presentations may be seen such as gastrointestinal involvement with diarrhea, vomiting or abdominal pain. Acute intestinal intussusception is the most common cause of bowel obstruction in infants (2-4 months of age) but rarely could it be encountered in adult. It is a very rare gastro-intestinal manifestation of COVID-19 with an invagination of a segment of the bowel within a more distal one. The part that prolapses into the other is called the intussusceptum, and the part that receives it is called the intussuscipiens. Most of COVID-19 cases of AII are reported in the pediatric population between 4 and 10 months. Only a single case of small bowel obstruction secondary to ileo-colic intussusception in a COVID-19 infection adult was published on April 2021. We present here a challenging case of intussusception secondary to COVID-19 infection in an adult in the absence of respiratory symptoms. Our study presents the first case in Africa of AII in adult patients due to COVID-19.
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INTRODUCTION: The coronavirus disease 2019 (COVID-19) pandemic caused by the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has resulted in around 1 million COVID-19 infection cases and over 29,000 deaths in Tunisia thus far. There is great variability in the prevalence of asthma among patients with COVID-19, but the impact of asthma on patients with COVID-19 is not clear. We sought to describe the clinical features of Tunisian patients with COVID-19 and to compare asthmatic and non-asthmatic patients. METHODOLOGY: This retrospective study included 675 Tunisian patients who were hospitalized with COVID-19. Clinical characteristics were collected from medical records. Bivariate analyses and multivariate regression models were used to assess the associations between asthma and the risk of severe symptoms, including death/recovery. RESULTS: The prevalence of asthma in the sample was 14.5%. The results show that asthmatic patients with COVID-19 have significantly less severe symptoms and better outcomes than non-asthmatic patients. CONCLUSIONS: Asthma was not found to be associated with higher severity or worse prognosis among patients with COVID-19 in Tunisia.
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Asma , COVID-19 , Humanos , Prevalência , Estudos Retrospectivos , COVID-19/epidemiologia , SARS-CoV-2 , Asma/complicações , Asma/epidemiologiaRESUMO
Erythrokeratodermia variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3. Genetic heterogeneity of EKV has already been suggested. We investigated at the clinical and genetic level a consanguineous Tunisian family with 2 sisters presenting an autosomal recessive form of EKV to better characterize this disease. Mutational analysis initially screened the connexin genes and Whole-exome sequencing (WES) was performed to identify the molecular aetiology of the particular EKV phenotype in the proband. Migratory shaped erythematous areas are the initial presenting sign followed by relatively stable hyperkeratotic plaques are the two predominates characteristics in both patients. However, remarkable variability of morphological and dominating features of the disease were observed between patients. In particular, the younger sister (proband) exhibited ichthyosiform-like appearance suggesting Autosomal Recessive Congenital Ichthyosis (ARCI) condition. No causative mutations were detected in the GJB3 and GJB4 genes. WES results revealed a novel missense homozygous mutation in NIPAL4 gene (c.835C>G, p.Pro279Ala) in both patients. This variant is predicted to be likely pathogenic. In addition, in silico analysis of the mutated 3D domain structure predicted that this variant would result in NIPA4 protein destabilization and Mg2+ transport perturbation, pointing out the potential role of NIPAL4 gene in the development and maintenance of the barrier function of the epidermis. Taken togheter, these results expand the clinical phenotype associated with NIPAL4 mutation and reinforce our hypothesis of NIPAL4 as the main candidate gene for the EKV-like ARCI phenotype.
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Eritroceratodermia Variável/genética , Sequenciamento do Exoma/métodos , Mutação de Sentido Incorreto , Receptores de Superfície Celular/química , Receptores de Superfície Celular/genética , Criança , Conexinas/genética , Consanguinidade , Feminino , Humanos , Lactente , Simulação de Acoplamento Molecular , Linhagem , Fenótipo , Estabilidade Proteica , TunísiaAssuntos
Linfoma Folicular/terapia , Recidiva Local de Neoplasia/tratamento farmacológico , Fotoquimioterapia/métodos , Neoplasias Cutâneas/terapia , Administração Cutânea , Ácido Aminolevulínico/administração & dosagem , Ácido Aminolevulínico/análogos & derivados , Dorso , Humanos , Linfoma Folicular/diagnóstico , Linfoma Folicular/patologia , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico , Radioterapia , Pele/efeitos dos fármacos , Pele/patologia , Pele/efeitos da radiação , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Resultado do TratamentoRESUMO
Findings of increased vascularization in melasma lesions and hyperpigmentation in acquired bilateral telangiectatic macules suggested a link between pigmentation and vascularization. Using high-magnification digital epiluminescence dermatoscopy, laser confocal microscopy, and histological examination, we showed that benign vascular lesions of the skin have restricted but significant hyperpigmentation compared with the surrounding skin. We then studied the role of microvascular endothelial cells in regulating skin pigmentation using an in vitro co-culture model using endothelial cells and melanocytes. These experiments showed that endothelin 1 released by microvascular endothelial cells induces increased melanogenesis signaling, characterized by microphthalmia-associated transcription factor phosphorylation, and increased tyrosinase and dopachrome tautomerase levels. Immunostaining for endothelin 1 in vascular lesions confirmed the increased expression on the basal layer of the epidermis above small vessels compared with perilesional skin. Endothelin acts through the activation of endothelin receptor B and the mitogen-activated protein kinase, extracellular signal-regulated kinase (ERK)1/2, and p38, to induce melanogenesis. Finally, culturing of reconstructed skin with microvascular endothelial cells led to increased skin pigmentation that could be prevented by inhibiting EDNRB. Taken together these results demonstrated the role of underlying microvascularization in skin pigmentation, a finding that could open new fields of research for regulating physiological pigmentation and for treating pigmentation disorders such as melasma.
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Células Endoteliais/fisiologia , Receptor de Endotelina B/fisiologia , Pigmentação da Pele , Células Cultivadas , Endotelinas/fisiologia , MAP Quinases Reguladas por Sinal Extracelular/fisiologia , Humanos , Sistema de Sinalização das MAP Quinases , Melaninas/biossíntese , Melanócitos/metabolismo , Proteínas Quinases p38 Ativadas por Mitógeno/fisiologiaAssuntos
Terapia a Laser , Melanose/terapia , Creme para a Pele/uso terapêutico , Adulto , Brometos , Cobre , Dexametasona/análogos & derivados , Dexametasona/uso terapêutico , Combinação de Medicamentos , Feminino , Humanos , Hidroquinonas/uso terapêutico , Masculino , Melanose/patologia , Pessoa de Meia-Idade , Estudos Prospectivos , Índice de Gravidade de Doença , Método Simples-Cego , Resultado do Tratamento , Tretinoína/uso terapêuticoRESUMO
Linear atrophoderma of Moulin is an acquired rare and self-limited skin condition. It is characterized by atrophic bandlike skin lesions that often show hyperpigmentation and always follow the lines of Blaschko. Usually it begins in childhood or adolescence and there is no evidence of any long term progression. We describe a case of a 21-year-old woman with clinical and histological features of linear atrophoderma of Moulin. The patient was successfully treated with methotrexate 20 mg/week during 6 months with an improvement of skin pigmentation and atrophy. Approximately, 30 cases of linear atrophoderma of Moulin were described in the literature. There is not a proven effective treatment of this dermatosis. High dose penicillin, topical corticosteroids, heparin, and oral potassium aminobenzoate have been used but found to be uneffective. To our knowledge, this is the first case of extensive linear atrophoderma of Moulin treated with methotrexate.
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Fármacos Dermatológicos/uso terapêutico , Hiperpigmentação/tratamento farmacológico , Metotrexato/uso terapêutico , Dermatopatias/tratamento farmacológico , Pigmentação da Pele/efeitos dos fármacos , Pele/efeitos dos fármacos , Atrofia , Feminino , Humanos , Hiperpigmentação/diagnóstico , Pele/patologia , Dermatopatias/diagnóstico , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
OBJECTIVE: Our aim is to report the clinical aspects, the etiologies, the treatment and the evolution of the psoas abscess in the adult. METHODS: Our retrospective study concerns 38 cases of psoas abscesses collected in the Department of Infectious Diseases of Sfax (Tunisia), over a period of 16 years (January 1990 - December 2005). RESULTS: The average age is 44 years (extremes: 16-76 years). The sex-ratio is 1.4. Six patients were diabetics and one had a chronic renal injury at the stage of hemodialysis. The clinical manifestations were: a fever (76.4%), an abdomino-pelvic ache (84.2%) and a psoitis (34.2%). All patients had a biologic inflammatory syndrome with a hyperleucocytosis in 28 cases. The abscess was one-sided in 29 cases and bilateral in 9 cases. After microbiological study and/or histological study, pathogens were identified in 31 patients, they were Staphylococcus aureus (10 cases), Staphylococcus lugdunensis (1 case), Streptococci (3 cases), Escherichia coli (2 cases), Bacteroides fragilis (1 case), Actinomyces (2 cases), Brucella (3 cases), Mycobacterium tuberculosis (8 cases) and Candida glabrata (1 case). The psoas abscess was primary in 10 cases and secondary in 28 cases. All the patients received an antibiotherapy or an antifungal therapy adapted to the micro-organism in cause, with a drainage of the abscess in 25 cases (surgical in 9 cases and percutaneous in 16 cases). The evolution was favourable in 36 cases. One patient presented recurrences and one patient died. CONCLUSION: The psoas abscess of the adult is characterized by a polymorphe clinical presentation. Germs in cause are very variable.