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https://www.readbyqxmd.com/read/29678144/interferon-alpha-as-antiviral-therapy-in-chronic-active-epstein-barr-virus-disease-with-interstitial-pneumonia-case-report
#1
Jacek Roliński, Ewelina Grywalska, Aleksandra Pyzik, Michał Dzik, Violetta Opoka-Winiarska, Agata Surdacka, Maciej Maj, Franciszek Burdan, Michał Pirożyński, Piotr Grabarczyk, Elżbieta Starosławska
BACKGROUND: Chronic active Epstein-Barr virus (EBV) disease (CAEBV) is defined as a severe, progressive lymphoproliferative disorder associated with active EBV infection persisting longer than 6 months and developing in patients without recognised immunodeficiency. Rarely, interstitial pneumonitis (IP) occurs as a serious complication in CAEBV patients. The standard therapeutic regimen for IP in CAEBV has not yet been defined. Although interferon alpha (IFN-alpha) is known to suppress viral DNA replication by affecting its basal promoter activation process, it is rarely used in CAEBV patients...
April 20, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29664513/vitiligo-type-cutaneous-manifestation-of-chronic-graft-versus-host-disease-case-report
#2
Karla Gálvez, Paula Muñoz, Valentina Vera, Claudio Arce
INTRODUCTION: Graft-versus-host disease (GVHD) is caused by a pathologic and destructive response of the organism as a result of the interaction between donor immunocompetent T lymphocytes and the recipient tisular antigens. It's considered the most serious complication of hematopoietic stem cell transplantation, most frequently described after bone marrow transplantation (BMT). The skin is usually the first and most commonly affected organ, in both acute and chronic, with a variable clinical spectrum of presentation...
February 2018: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/29496081/the-endovascular-management-of-neurofibromatosis-associated-aneurysms-a-systematic-review
#3
David Bargiela, Misha M Verkerk, Ian Wee, Kiera Welman, Eugene Ng, Andrew M T L Choong
BACKGROUND: Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple café-au-lait macules, benign neurofibromas, and iris hamartomas. Albeit less common, vascular lesions of medium and large-sized arteries and veins are a well-recognized complication, which can lead to fatal consequences such as rupture. METHOD: A systematic review was conducted as per the Preferred Reporting Instructions for Systematic Reviews and Meta-analysis (PRISMA) guidelines utilizing PubMed, EMBASE, and Cochrane databases...
March 2018: European Journal of Radiology
https://www.readbyqxmd.com/read/29431372/pigmentation-disorders-diagnosis-and-management
#4
Scott Plensdorf, Maria Livieratos, Nabil Dada
Pigmentation disorders are commonly diagnosed, evaluated, and treated in primary care practices. Typical hyperpigmentation disorders include postinflammatory hyperpigmentation, melasma, solar lentigines, ephelides (freckles), and café au lait macules. These conditions are generally benign but can be distressing to patients. Appropriate dermatologic history, skin examination, and skin biopsy, when appropriate, can help exclude melanoma and its precursors. In addition to addressing the underlying condition, hyperpigmentation is treated with topical agents, chemical peels, cryotherapy, light or laser therapy, or a combination of these methods...
December 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/29386837/paraneoplastic-pyoderma-gangrenosum-associated-with-rectal-adenocarcinoma
#5
Hye Rin You, Jae-Kyun Ju, Sook Jung Yun, Jee-Bum Lee, Seong-Jin Kim, Young Ho Won, Seung-Chul Lee
Pyoderma gangrenosum (PG) is a rare chronic neutrophilic dermatosis characterized by painful necrotic ulceration. The most common diseases associated with PG are inflammatory bowel disease, certain rheumatologic and hematologic diseases, and malignancy. Here, we describe the case of a 60-year-old man who presented with pruritic and painful erythematous ulcerative macules and patches on both lower extremities, and was diagnosed with PG based on his clinical and histologic features. His PG became exacerbated despite standard therapy with a high-dose systemic steroid in combination with dapsone and cyclosporine...
February 2018: Annals of Dermatology
https://www.readbyqxmd.com/read/29378663/early-diagnosis-of-tuberous-sclerosis-complex-a-race-against-time-how-to-make-the-diagnosis-before-seizures
#6
Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
BACKGROUND: Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also characterized by high rates of neurological and neuropsychiatric abnormalities, including epilepsy affecting 70-90% of patients and being one of the major risk factors of intellectual disability. The first seizures in TSC patients appear usually between the 4th and the 6th months of life. Recent studies have shown the beneficial role of preventative antiepileptic treatment in TSC patients, with the possibility for improvement of cognitive outcome...
January 29, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29237090/distinctive-cutaneous-and-systemic-features-associated-with-specific-antimyositis-antibodies-in-adults-with-dermatomyositis-a-prospective-multicentric-study-of-117-patients
#7
M Best, M Jachiet, N Molinari, F Manna, C Girard, V Pallure, A Cosnes, D Lipsker, T Hubiche, J-L Schmutz, Y Le Corre, N Cordel, M Dandurand, O Dereure, B Guillot, A Du-Thanh, C Bulai Livideanu, F Chasset, J-D Bouaziz, C Francès, D Bengoufa, T Vincent, D Bessis
BACKGROUND: Identification of myositis-specific autoantibodies (MSAs) for dermatomyositis (DM) could allow the characterization of an antibody-associated clinical phenotype. OBJECTIVE: We sought to define the clinical phenotype of DM and the risk of cancer, interstitial lung disease (ILD) and calcinosis based on MSA. METHODS: A 3.5-year multicentre prospective study of adult DM patients was conducted to determine the clinical phenotype associated with MSAs and the presence of cancer, ILD and calcinosis...
December 13, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29234546/repigmentation-of-tenacious-vitiligo-on-apremilast
#8
Sara B Huff, Lorie D Gottwald
Vitiligo is a common pigment disorder characterized by acquired loss of function or absence of melanocytes, leading to distinct areas of depigmentation. Physical exam reveals sharply demarcated, depigmented macules or patches on otherwise normal skin. Vitiligo can present at any age, in any skin color. There is no specific serologic marker for diagnosis, but patients often have other autoimmune problems. Treatment options are limited and are difficult given the fact that the pathogenesis of the disease is not well elucidated...
2017: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/29210711/an-autopsy-case-of-sudden-death-in-neurofibromatosis-type-1-with-pheochromocytoma-and-myocarditis
#9
Masataka Takamiya, Hisae Niitsu, Kiyoshi Saigusa
An autopsy case of sudden death in a 33-year-old man with neurofibromatosis type 1 (von Recklinghausen disease), pheochromocytoma, and myocarditis is reported. The decedent was found in his bedroom in cardiopulmonary arrest. Polypoid, elastic dermal papules on the neck, chest, abdomen, and back, and flat dark-brown macules on the chest and abdomen were observed. Flat, ovoid, dark-brown freckles were present in both axillae. Examination of the right adrenal gland revealed a tumor measuring 5 cm × 5 cm × 3 cm...
March 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29190196/clinical-and-histologic-features-of-acute-onset-erythroderma-in-dogs-with-gastrointestinal-disease-18-cases-2005-2015
#10
Christine L Cain, Charles W Bradley, Elizabeth A Mauldin
OBJECTIVE To describe the clinical and histologic features of acute erythroderma in dogs with gastrointestinal disease. DESIGN Retrospective case series. ANIMALS 18 dogs with erythroderma and gastrointestinal disease. PROCEDURES Medical records and biopsy specimens were reviewed. Information collected from medical records included signalment, clinical signs, physical examination and diagnostic test results, treatment, and outcome. The Naranjo algorithm was used to estimate the probability of an adverse drug reaction for each dog...
December 15, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29186240/evaluation-of-treatment-response-to-autologous-transplantation-of-noncultured-melanocyte-keratinocyte-cell-suspension-in-patients-with-stable-vitiligo
#11
Mariana Gontijo Ramos, Daniel Gontijo Ramos, Camila Gontijo Ramos
BACKGROUND: Vitiligo is a chronic disease characterized by the appearance of achromic macules caused by melanocyte destruction. Surgical treatments with melanocyte transplantation can be used for stable vitiligo cases. OBJECTIVES: To evaluate treatment response to the autologous transplantation of noncultured epidermal cell suspension in patients with stable vitiligo. METHODS: Case series study in patients with stable vitiligo submitted to noncultured epidermal cell suspension transplantation and evaluated at least once, between 3 and 6 months after the procedure, to observe repigmentation and possible adverse effects...
May 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29166512/segmental-lichen-aureus-an-uncommon-presentation
#12
Pedro de Freitas Silva Torraca, Nathalia Dias Negrão Murback, Nayara de Castro Wiziack, Tânia Christina Marchesi de Freitas, Greicy Mara França
Pigmented purpuric dermatoses are chronic vascular inflammatory conditions characterized by the presence of pigmented macules. Among its different presentations, lichen aureus is distinguished by the lichenoid conformation of its plaques and the predilection for lower limb involvement. Its segmented form is rare and difficult to control, especially in cases of symptomatic lesions. We report a rare case of segmental lichen aureus with six years of evolution associated with light itching. We also discuss the main therapeutic approaches to control the disease...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29163360/vitiligo-and-autoimmune-thyroid-disorders
#13
REVIEW
Enke Baldini, Teresa Odorisio, Salvatore Sorrenti, Antonio Catania, Francesco Tartaglia, Giovanni Carbotta, Daniele Pironi, Roberta Rendina, Eleonora D'Armiento, Severino Persechino, Salvatore Ulisse
Vitiligo represents the most common cause of acquired skin, hair, and oral depigmentation, affecting 0.5-1% of the population worldwide. It is clinically characterized by the appearance of disfiguring circumscribed skin macules following melanocyte destruction by autoreactive cytotoxic T lymphocytes. Patients affected by vitiligo usually show a poorer quality of life and are more likely to suffer from depressive symptoms, particularly evident in dark-skinned individuals. Although vitiligo is a non-fatal disease, exposure of affected skin to UV light increases the chance of skin irritation and predisposes to skin cancer...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29146054/lymphocytic-thrombophilic-arteritis-a-distinct-inflammatory-type-i-interferon-and-c5b-9-mediated-subcutaneous-endovasculitis
#14
Cynthia M Magro, Jad Saab
BACKGROUND: Lymphocytic thrombophilic arteritis is a recently recognized subcuticular larger vessel vasculitis characterized by striking vascular luminal thrombosis. METHODS: The clinical features, histopathology and phenotypic profile of ten patients with lymphocytic thrombophilic arteritis were explored in an attempt to better define the entity from a clinical and pathophysiologic perspective. RESULTS: The patients were all female (mean age of 43) presenting with generally asymptomatic lower and upper extremity hyperpigmented macules...
December 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/29136066/unsuspected-lymphomatoid-granulomatosis-in-a-patient-with-antisynthetase-syndrome
#15
Stephanie L Skala, Alexandra C Hristov, Johann E Gudjonsson, May P Chan
Clinical diagnosis of lymphomatoid granulomatosis (LYG) often is difficult, especially in patients with multiple comorbidities. We present a 60-year-old woman with worsening fatigue, night sweats, unintentional weight loss, and dyspnea of 2 weeks' duration. Her medical history was remarkable for recent radiation therapy for recurrent breast cancer and antisynthetase syndrome complicated by interstitial lung disease and controlled with azathioprine. Computed tomography showed ground-glass opacities and nodular infiltrates in all lung lobes, raising concern for radiation pneumonitis and drug toxicity...
October 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29114961/the-importance-of-dermoscopy-for-the-diagnosis-of-acquired-bilateral-telangiectatic-macules-the-angioid-streak-pattern-reveals-underlying-chronic-liver-disease
#16
G-W Kim, K Shin, T-W Kim, H-S You, H-J Jin, W-H Shim, H-S Kim, H-C Ko, B-S Kim, M-B Kim
BACKGROUND: Acquired bilateral telangiectatic macules (ABTM) are a newly recognized disease entity, which manifest as multiple telangiectatic pigmented macules confined mostly to the upper arms. OBJECTIVES: To evaluate clinical and dermoscopic features in a group of 50 patients with ABTM and to determine the diagnostic usefulness of dermoscopy in ABTM. METHODS: Patients were selected from two tertiary teaching hospitals in Korea [Pusan National University Hospitals (Busan and Yangsan)]...
November 8, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#17
MULTICENTER STUDY
Peter E Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC. METHODS: Two multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age...
December 2017: Pediatrics
https://www.readbyqxmd.com/read/29055067/cutaneous-atypical-papular-cd8-lymphoproliferative-disorder-at-acral-sites-in-a-renal-transplant-patient
#18
C Baykal, N Büyükbabani, D Seçkin, A Polat Ekinci, Z Yılmaz, W Kempf
A 20-year-old woman presented with a 2-month history of an acute symmetrical eruption, manifesting as asymptomatic ill-defined erythematous macules and hyperkeratotic papules on the palms. The patient was a renal transplant recipient, and the lesions had developed 2 months post-transplantation. Histologically, the eruption shared features of a reactive inflammatory condition called papular eruption of atypical CD8+ lymphocytes as well as primary cutaneous acral CD8+ T-cell lymphoma (a provisional indolent entity in the new World Health Organisation classification of lymphoid neoplasms, 2016)...
October 20, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28978585/beyond-polycystic-kidney-disease
#19
Susana Franco Santos, Telma Francisco, Ana Isabel Cordeiro, Maria João Paiva Lopes
Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndrome is characterised by the early appearance of autosomal dominant polycystic kidney disease in combination with several phenotypic manifestations of TS...
October 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28964717/enpp1-mutation-causes-recessive-cole-disease-by-altering-melanogenesis
#20
Marwa Chourabi, Mei Shan Liew, Shawn Lim, Dorra H'mida-Ben Brahim, Lobna Boussofara, Liang Dai, Pui Mun Wong, Jia Nee Foo, Badreddine Sriha, Kim Samirah Robinson, Simon Denil, John Ea Common, Ons Mamaï, Youcef Ben Khalifa, Mathieu Bollen, Jianjun Liu, Mohamed Denguezli, Carine Bonnard, Ali Saad, Bruno Reversade
Cole disease is a genodermatosis of pigmentation following a strict dominant mode of inheritance. In this study, we investigated eight patients affected with an overlapping genodermatosis after recessive inheritance. The patients presented with hypo- and hyperpigmented macules over the body, resembling dyschromatosis universalis hereditaria in addition to punctuate palmoplantar keratosis. By homozygosity mapping and whole-exome sequencing, a biallelic p.Cys120Arg mutation in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) was identified in all patients...
February 2018: Journal of Investigative Dermatology
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