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https://www.readbyqxmd.com/read/29237090/distinctive-cutaneous-and-systemic-features-associated-with-specific-anti-myositis-antibodies-in-adults-with-dermatomyositis-a-prospective-multicentric-study-of-117-patients
#1
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 (MSA) 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 multicenter prospective study of adult DM patients was conducted to determine the clinical phenotype associated with MSA 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
#2
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
#3
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...
November 28, 2017: 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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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 following recessive inheritance. The patients presented with hypo- and hyper-pigmented 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...
September 27, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28954111/congenital-self-healing-reticulohistiocytosis-with-spontaneous-regression
#15
Leela Rani Parimi, Jiabao You, Liu Hong, Furen Zhang
Congenital self-healing reticulohistiocytosis is a rare, benign, self-limiting variant of Langerhans cell histiocytosis (LCH). LCH encompasses a group of idiopathic disorders characterized by the clonal proliferation of Langerhans cells. Congenital self-healing reticulohistiocytosis typically appears at birth or in the neonatal period as isolated cutaneous lesions, often appearing as multiple crusted papules with no systemic findings. Although clinical features seem aggressive, the lesions tend to involute spontaneously within weeks to a few months leaving residual hypo or hyperpigmented macules...
July 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28937433/a-case-of-phacomatosis-pigmentokeratotica-associated-with-multiple-basal-cell-carcinomas
#16
Seung-Hee Loh, Bark-Lynn Lew, Woo-Young Sim
Phacomatosis pigmentokeratotica is a recently identified disease characterized by the coexistence of an epidermal nevus with sebaceous differentiation arranged along Blaschko lines and a speckled lentiginous nevus showing a checkerboard pattern, mostly in association with various extracutaneous defects. A 52-year-old man presented with asymptomatic ulcerative plaque on his left side of perioral area. A 2 × 2-cm-sized fleshy colored ulceration on his left perioral area was consistent with basal cell carcinoma with nevus sebaceous...
September 13, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28933509/-targeting-the-skin-erythema-multiforme-in-dogs-and-cats
#17
Ralf Mueller, Teresa M S A Boehm, Christoph J Klinger, Laura Udraite, Ralf S Mueller
This review article will describe the complex nature of erythema multiforme in dogs and cats. The disease pattern will be illustrated in terms of etiology, pathogenesis, clinical signs, diagnostics and therapy. Erythema multiforme is a rare, immune-mediated skin disorder with an acute specific reaction pattern of skin and mucous membranes against different underlying causes. Reported triggering factors include drugs, food ingredients and neoplasias, but viral or bacterial infections and vaccine reactions were also identified...
September 20, 2017: Tierärztliche Praxis. Ausgabe K, Kleintiere/Heimtiere
https://www.readbyqxmd.com/read/28906087/phototherapy-for-vitiligo-what-s-new
#18
Andrea Paro Vidolin, Caterina Aurizi, Giovanni Leone
Vitiligo is a disorder characterized by the development of depigmented macules and patches. Existing treatments include topical and systemic immunosuppressants, topical vitamin D analogues in monotherapy or in association with phototherapy, phototherapy and surgical techniques, which together may serve to halt disease progression, stabilize depigmented lesions, and encourage repigmentation. Narrow-band UVB (NB-UVB 310-315 nm) radiation is now considered as the "gold standard" for the treatment of diffuse vitiligo...
October 2017: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/28868012/treatment-of-primary-and-metastatic-multifocal-mucosal-melanoma-of-the-oral-cavity-with-imatinib
#19
Teresa Deinlein, Ingrid H Wolf, Barbara Rainer, Romana Kupsa, Erika Richtig, Rainer Hofmann-Wellenhof, Iris Zalaudek
BACKGROUND: Mucosal melanoma of the oral cavity is a rare entity and accounts for less than 1-3% of all melanomas. Contrary to cutaneous melanoma, primary oral melanoma more commonly harbors mutations in c-KIT. METHODS: A 64-year-old man presented with asymptomatic, multiple, brown-to-black macules in the oral cavity. A biopsy was taken and histopathology exhibited mucosal melanoma. In molecular analysis, a c-KIT mutation was proven and a CT scan revealed pulmonary metastases...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28833649/adar1-splicing-mutation-leading-to-dyschromatosis-hereditaria-in-a-caucasian-patient
#20
J Petre, E Lasseaux, C Ged, B Arveiler, A Taïeb, F Morice-Picard
Dyschromatosis symmetrica hereditaria (DSH, OMIM 127400) is a rare autosomal dominant disorder characterized by hypo-and hyperpigmented macules on the dorsal aspects of hands and feet and freckle-like macules on the face(1). Histologically, there is an increase in epidermal melanin pigment in the hyperpigmented area and with normally structured melanosomes, together with an absence of melanin pigment in hypopigmented macules. The disease is known to be caused by mutations in the adenosine deaminase, RNA-specific (ADAR) gene (Miyamura et al...
August 21, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
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