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https://www.readbyqxmd.com/read/28407871/acral-hemorrhagic-darier-disease
#1
M Á Flores-Terry, M García-Arpa, M Llamas-Velasco, C Mendoza-Chaparro, C Ramos-Rodríguez
Darier disease is an autosomal-dominant inherited condition caused by mutation of a gene, which produces a protein involved in calcium channel regulation. The disease has a variety of manifestations and lacks consistent genotype-phenotype correlations. Acral hemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities. Other classic signs of the disease may be present in the same patient or relatives. Histopathology reveals dyskeratosis and suprabasal acantholysis with hemorrhagic lacunae...
April 10, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28407215/updated-review-of-genetic%C3%A2-reticulate%C3%A2-pigmentary%C3%A2-disorders
#2
REVIEW
J Zhang, M Li, Z Yao
Reticulate pigmentary disorders are a group of disorders characterized by hyperpigmented and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria and reticulate acropigmentation of Kitamura. Although, each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, these disorders are highly overlapped and difficult to differentiate in the clinical setting...
April 13, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28346662/intravenous-immunoglobulin-contributes-to-control-anti-melanoma-differentiation-associated-protein-5-mda5-antibody-associated-dermatomyositis-with-palmar-violaceous-macules-papules
#3
H Koguchi-Yoshioka, N Okiyama, K Iwamoto, Y Matsumura, T Ogawa, S Inoue, R Watanabe, M Fujimot
Autoantibodies to melanoma differentiation-associated protein 5 (MDA5) are associated with a subset of dermatomyositis (DM) patients who have rapidly progressive interstitial lung disease (RP-ILD) with poor prognosis. Intensive immunosuppressive therapy is initiated before irreversible lung damage can occur; however, there are few lines of evidence for the treatment of RP-ILD. Here, we report 3 cases of anti-MDA5 antibody-associated DM with RP-ILD in which the patients were treated with combined modality therapy including high-dose prednisolone, tacrolimus, intravenous cyclophosphamide, and immunoglobulins (IVIG)...
March 27, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28336152/development-of-hypomelanotic-macules-is-associated-with-constitutive-activated-mtorc1-in-tuberous-sclerosis-complex
#4
Lisbeth Birk Møller, Bitten Schönewolf-Greulich, Thomas Rosengren, Lasse Jonsgaard Larsen, John R Ostergaard, Mette Sommerlund, Caroline Ostenfeldt, Brian Stausbøl-Grøn, Karen Markussen Linnet, Pernille Axél Gregersen, Uffe Birk Jensen
TSC1 and TSC2 are genes mutated in the syndrome TSC (tuberous sclerosis complex). We describe a 3-generation family with 17 affected members, all presenting classic TSC features except renal manifestations. The disease segregates with a silent substitution in TSC2, c.4149C>T, p.(Ser1838Ser), which leads to the formation of an active donor splice site, resulting in three shorter alternatively spliced transcripts with premature stop codons. However a small amount of normal spliced transcript is apparently produced from the mutated allele, which might explain the milder phenotype...
March 1, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28329597/melanoma-occurrence-under-long-term-etanercept-treatment-for-psoriasis-a-case-report
#5
Laura Atzori, Luca Pilloni, Severino Murgia, Cristina Mugheddu, Monica Pau, Franco Rongioletti
Melanoma occurrence during treatment with anti-tumor necrosis factor is considered an incidental event, although very recent studies suggest a risk. Etanercept is a fusion protein that binds the tumor necrosis factor receptor and is included among TNF inhibitors, approved for the treatment of several autoimmune diseases, such as psoriasis.We described a 79-year-old man with psoriasis, being treated with etanercept, who presented with a new brown to black macule on his right shoulder; this was immediately surgically excised...
October 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28328827/clinical-study-on-single-organ-cutaneous-small-vessels-vasculitis-socsvv
#6
Maciej Pastuszczak, Magdalena Celińska-Löwenhoff, Joanna Sułowicz, Anna Wojas-Pelc, Jacek Musiał
Leukocytoclastic vasculitis (LCV) is a heterogenous group of disorders that may manifest as a mild disease isolated to the skin or be a part of life-threatening systemic vasculitis. According to the 2012 Chapel Hill Consensus Conference nomenclature, patients presenting symptoms of LCV confined only to the skin should be defined as suffering from a single-organ cutaneous small vessel vasculitis (SoCSVV). SoCSVV is a benign disease with a good clinical outcome but with a significant risk of relapse and skin ulcer formation...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28300907/dermatologic-manifestations-of-infective-endocarditis
#7
Rafael Tomaz Gomes, Larissa Rezende Tiberto, Viviane Nardin Monte Bello, Margarete Aparecida Jacometo Lima, Gisele Alborghetti Nai, Marilda Aparecida Milanez Morgado de Abreu
Despite advances in diagnosis and treatment, infective endocarditis still shows considerable morbidity and mortality rates. The dermatological examination in patients with suspected infective endocarditis may prove very useful, as it might reveal suggestive abnormalities of this disease, such as Osler's nodes and Janeway lesions. Osler's nodes are painful, purple nodular lesions, usually found on the tips of fingers and toes. Janeway lesions, in turn, are painless erythematous macules that usually affect palms and soles...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28300906/bier-s-spots-with-onset-in-childhood
#8
Larissa Karine Leite Portocarrero, Maria Isabel Ramos Saraiva, Marcella Amaral Horta Barbosa, Isis Suga Veronez, Bethania Cabral Cavalli Swiczar, Neusa Yuriko Sakai Valente
Bier spots are small, irregular, hypopigmented macules that are usually found on the arms and legs. The macules disappear when the limb is raised. Bier spots have been reported in association with a number of conditions but there is no consistent association to specific desease. Although they usually affect young adults, we report a case of Bier spots that began in childhood. As an asymptomatic and possibly transitional condition, the disease does not require treatment.
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28300885/chemical-leukoderma-induced-by-dimethyl-sulfate
#9
Maya Valeska Gozali, Jia-An Zhang, Fei Yi, Bing-Rong Zhou, Dan Luo
Chemical leukoderma occurs due to the toxic effect of a variety of chemical agents. Mechanisms include either destruction or inhibition of melanocytes. We report two male patients (36 and 51 years old) who presented with multiple hypopigmented macules and patches on the neck, wrist, and legs after exposure to dimethyl sulfate in a chemical industry. Physical examination revealed irregular depigmentation macules with sharp edges and clear hyperpigmentation around the lesions. History of repeated exposure to a chemical agent can help the clinical diagnosis of chemical leukoderma...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28272658/early-stage-prurigo-pigmentosa-a-case-report
#10
Emel Onaygil, Abdullah Songur, Zekayi Kutlubay, Cuyan Demirkesen
Prurigo pigmentosa is a rare inflammatory dermatosis that primarily affects adolescents and young adults. Even though it is most commonly seen in Japanese women, other countries have reported cases with increasing frequency. It is characterized by erythematous papules and macules on the trunk, neck and chest that resolve leaving a reticulate hyperpigmentation. Some endogenous factors related with ketosis like fasting, diet, diabetes, pregnancy and exogenous agents like chrome, nickel, para-amino compounds have been accused of playing a role in etiology...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28247832/-a-child-with-a-fever-and-rash
#11
B Herwegen, R Frank
A 1-year-old boy with flu-like symptoms and red papules, vesicles and macules around the mouth, on the extremities, on the palms of his hands and soles of the feet was seen at the outpatient clinic. He was diagnosed with an atypical form of hand, foot, and mouth disease, which can present itself in various forms.
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28242092/-cutaneous-involvement-in-t-lymphoblastic-lymphoma
#12
C Nascimbeni, S Chantepie, C Brugiere, F Comoz, V Salaun, L Verneuil
BACKGROUND: Lymphoblastic lymphoma (LBL) is a rare form of non-Hodgkin's lymphoma (NHL). Cutaneous LBL is seen in less than 20% of patients. PATIENTS AND METHODS: Herein, we report the case of a 66-year-old male patient without any previous disease history of note and who was presenting a gradually spreading tumoral lesion of the scalp, several purplish macules and nodules on the trunk, and a single spinal adenopathy. A thoracic-abdominal-pelvic CT scan performed for acute renal failure, revealed extensive infiltration of retroperitoneal tissue...
February 24, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28230061/neurofibromatosis-type-1
#13
REVIEW
David H Gutmann, Rosalie E Ferner, Robert H Listernick, Bruce R Korf, Pamela L Wolters, Kimberly J Johnson
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis type 1 develop pigmentary lesions (café-au-lait macules, skinfold freckling and Lisch nodules) and dermal neurofibromas. Some individuals develop skeletal abnormalities (scoliosis, tibial pseudarthrosis and orbital dysplasia), brain tumours (optic pathway gliomas and glioblastoma), peripheral nerve tumours (spinal neurofibromas, plexiform neurofibromas and malignant peripheral nerve sheath tumours), learning disabilities, attention deficits, and social and behavioural problems, which can negatively affect quality of life...
February 23, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28188628/histopathological-aspects-of-cutaneous-erythematous-papular-eruptions-induced-by-immune-checkpoint-inhibitors-for-the-treatment-of-metastatic-melanoma
#14
Raul E Perret, Nicolas Josselin, Anne-Chantal Knol, Amir Khammari, Julie Cassecuel, Lucie Peuvrel, Brigitte Dreno
BACKGROUND: Immune checkpoint blockade therapy (ICBT) for the treatment of melanoma has led to an important improvement of overall survival in advanced stage patients. However, secondary cutaneous maculopapular eruptions (CMPEs) are frequent and remain poorly characterized. METHODS: We performed a retrospective analysis of melanoma patients from our institution who developed CMPEs during ICBT. Clinical information was retrieved, and histopathological and immunohistochemical characterization was performed by two pathologists...
February 10, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28105242/skin-toxicity-in-a-patient-with-ovarian-cancer-treated-with-pegylated-liposomal-doxorubicin-a-case-report-and-review-of-the-literature
#15
Joanna Kubicka-Wołkowska, Magdalena Kędzierska, Maja Lisik-Habib, Piotr Potemski
Pegylated liposomal doxorubicin (PLD) is a form of doxorubicin enclosed in pegylated liposomes. In contrast to conventional doxorubicin, PLD is characterized by a lower incidence of cardiotoxicity and myelosuppression. However, it induces specific mucocutaneous side effects, particularly palmar-plantar erythrodysesthesia (PPE). Other dermal manifestations, such as intertrigo-like dermatitis, diffuse follicular rash, melanotic macules, maculopapular rash or recall phenomenon are less common. Mechanisms that lead to skin toxicity remain unclear, however, certain reports indicate that drug excretion in sweat, host-vs...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28074523/familial-gastrointestinal-stromal-tumors-lentigines-and-caf%C3%A3-au-lait-macules-associated-with-germline-c-kit-mutation-treated-with-imatinib
#16
Divya Gupta, Laxmisha Chandrashekar, Lidia Larizza, Elisa A Colombo, Laura Fontana, Cristina Gervasini, Devinder M Thappa, Medha Rajappa, Kalai Selvi Rajendiran, Gubbi Shamanna Sreenath, Vikram Kate
BACKGROUND: Familial lentiginosis syndromes are characterized by a wide array of manifestations resulting from activation of molecular pathways which control growth, proliferation, and differentiation of a broad range of tissues. Familial gastrointestinal stromal tumors (GISTs) are often accompanied by additional features like hyperpigmentation, mastocytosis, and dysphagia. They have been described with mutations in c-kit (most commonly), platelet-derived growth factor receptor A, neurofibromatosis-1, and succinate dehydrogenase genes...
February 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#17
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27875365/clear-cell-papulosis-report-of-a-case-with-unique-clinical-and-histologic-findings
#18
Josie Eiras Bisi Dos Santos, Mario Fernando Ribeiro de Miranda
Clear cell papulosis is a rare, self-limited, benign disease of early childhood, characterized by white macules and flat papules over the milk line. Histopathologically, it is characterized by scattered clear cells throughout the basal and/or suprabasal epidermal layers, which-as clear cells of Toker of the nipple do-typically express cytokeratin 7. They also exhibit other markers expected for adenoid differentiation, such as low-molecular weight cytokeratins, carcinoembryonic antigen, epithelial membrane antigen, and mucin...
December 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27871620/clinicopathologic-variants-of-mycosis-fungoides
#19
H Muñoz-González, A M Molina-Ruiz, L Requena
Mycosis fungoides (MF) is the most common primary cutaneous T-cell lymphoma. The clinical course of the disease is typically characterized by progression from a nonspecific phase of erythematous macules to the appearance of plaques and ultimately, in some patients, tumors. However, numerous clinical and histopathologic variants of MF with specific therapeutic and prognostic implications have been described in recent decades. Clarification of the differential diagnosis can be frustrated by the wide range of clinical manifestations and histopathologic patterns of cutaneous infiltration, particularly in the early phases of the disease...
November 18, 2016: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/27853914/non-dermatophyte-dermatoses-mimicking-dermatophytoses-in-animals
#20
REVIEW
Didier Pin
Dermatophytoses in animals are fungal diseases of the skin caused by dermatophyte fungi of the genus Microsporum or Trichophyton. Because the infection is generally follicular, the most common clinical sign is one or many circular areas of alopecia with variable erythema, scaling and crusting, and the primary differential diagnoses are follicular infections, such as bacterial folliculitis and demodicosis. Although dermatophyte folliculitis or ringworm is the most commonly observed lesion of dermatophytoses in animals, other presentations may be observed according to the host species and the dermatophyte involved: dermatophyte folliculitis or ringworm, scaling and crusting in dermatophytosis due to Microsporum persicolor, nodule in case of kerion or mycetoma, matted hairs, seborrheic dermatosis or miliary dermatitis in cats, generalized exfoliative dermatoses in dogs, cats and horses, superficial non-follicular pustules, papules and macules in the Devon Rex cat, pruritic dermatophytoses in dogs, cats and horses, and onychomycosis in dogs, cats and horses...
February 2017: Mycopathologia
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