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https://www.readbyqxmd.com/read/28978585/beyond-polycystic-kidney-disease
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28828385/prevalence-and-clinical-characteristics-of-itch-in-vitiligo-and-its-clinical-significance
#9
Vasanop Vachiramon, Woranit Onprasert, Sarawin Harnchoowong, Kumutnart Chanprapaph
OBJECTIVE: Vitiligo usually presented as asymptomatic depigmented macules and patches. Little is known regarding itch in vitiligo. This study aimed to evaluate the prevalence and characteristics of itch in vitiligo patients. PATIENTS AND METHODS: A cross-sectional study was conducted on vitiligo patients. Itch character and intensity were determined through questionnaires. Evaluation was also made by dermatologists to define vitiligo subtype, body surface area, Koebner phenomenon (KP), and so on...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28728861/-vitiligo-occurring-on-dermal-melanocytosis-nevus-of-ota-in-a-dark-skinned-patient
#10
K-C Ahogo, I-P Gbery, B Vagamon, O-A Ouattara, K-A Kouassi, H-S Kourouma, Y-I Kouassi
BACKGROUND: Nevus of Ota is a rare disease most frequently found in Asians. It presents clinically as a bluish gray hyperpigmentation of one side of the face. Transformation into melanoma and glaucoma are the main risks. The appearance of vitiligo lesions with poliosis within a nevus of Ota is exceptional. PATIENTS AND METHODS: A 22-year-old female patient with a nevus of Ota consulted for depigmentation of the eyelashes. Physical examination revealed hyperpigmentation in the right orbitofrontal part of her face, achromic macules and eyelash poliosis...
July 17, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28723766/lady-with-wings-a-case-report-of-giant-neurofibromatosis-type-i
#11
Suraj Maharjan, Xiucun Li, Jianli Cui, Yang Liu, Laijin Lu
RATIONALE: Neurofibromatosis type I (NF-I) accounts for approximately 90% of neurofibromatosis. NF-I is an autosomal dominant genetic disease which results from the gene mutation of NF-I situated in chromosome 17q11.2. PATIENT CONCERNS: A 32-year-old lady presented with a giant wing like structure on her back which started growing from her childhood. DIAGNOSIS: A diagnosis of NF-I was confirmed as she presented with multiple cutaneous nodules, multiple café-au-lait macules of different sizes, scoliosis deformity, and positive family history of neurofibroma...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28705289/association-of-piebaldism-with-caf%C3%A3-au-lait-macules
#12
Naveen Kumar Kansal, Saurabh Agarwal
A 45-day-old infant was brought by his parents to the dermatology outpatient department with chief complaints of asymptomatic, depigmented lesions that had been present on his skin since birth. On mucocutaneous examination, large rhomboid-shaped depigmented macules were noted on the abdomen and lower extremities bilaterally (Figure 1). A depigmented macule was present on the forehead, with white hair (leukotrichia; a "developing forelock") (Figure 2). Three hyperpigmented lesions (café-au-lait macules [CALMs]) were also noted on the chest (Figure 1a)...
2017: Skinmed
https://www.readbyqxmd.com/read/28692440/cefepime-associated-with-phenytoin-induced-stevens-johnson-syndrome
#13
José Marco-Del Río, Esther Domingo-Chiva, Pablo Cuesta-Montero, Ana Valladolid-Walsh, Eva María García-Martínez
We describe a recent case of Stevens-Johnson Syndrome. A 49-year-old man was admitted to the Intensive Care Unit of an Anaesthesia and Resuscitation Department because of a Fournier gangrene that derived in a sepsis, ventilator-associated pneumonia, and renal failure. He was under treatment with cefepime and suffered a generalized status epilepticus, so started treatment with phenytoin. The next day he developed a "maculous cutaneous eruption in trunk and lower limbs" compatible with a Stevens-Johnson Syndrome...
July 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/28685247/vitiligo-focus-on-clinical-aspects-immunopathogenesis-and-therapy
#14
REVIEW
Katia Boniface, Julien Seneschal, Mauro Picardo, Alain Taïeb
Vitiligo is an acquired chronic depigmenting disorder of the skin, with an estimated prevalence of 0.5% of the general population, characterized by the development of white macules resulting from a loss of epidermal melanocytes. The nomenclature has been revised after an extensive international work within the vitiligo global issues consensus conference, and vitiligo (formerly non-segmental vitiligo) is now a consensus umbrella term for all forms of generalized vitiligo. Two other subsets of vitiligo are segmental vitiligo and unclassified/undetermined vitiligo, which corresponds to focal disease and rare variants...
July 6, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28674347/cardiovascular-and-metabolic-diseases-comorbid-with-psoriasis-beyond-the-skin
#15
Masutaka Furue, Gaku Tsuji, Takahito Chiba, Takafumi Kadono
A close association of systemic inflammation with cardiovascular diseases and metabolic syndrome is recently a popular topic in medicine. Psoriasis is a chronic inflammatory skin disease with a prevalence of approximately 0.1-0.5% in Asians. It is characterized by widespread scaly erythematous macules that cause significant physical and psychological burdens for the affected individuals. The accelerated inflammation driven by the TNF-α/IL-23/IL-17A axis is now known to be the major mechanism in the development of psoriasis...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28659291/characterizing-the-pyrenophora-teres-f-maculata-barley-interaction-using-pathogen-genetics
#16
Steven A Carlsen, Anjan Neupane, Nathan A Wyatt, Jonathan K Richards, Justin D Faris, Steven S Xu, Robert S Brueggeman, Timothy L Friesen
Pyrenophora teres f. maculata is the cause of the foliar disease spot form net blotch (SFNB) on barley. To evaluate pathogen genetics underlying the P. teres f. maculata-barley interaction, we developed a 105-progeny population by crossing two globally diverse isolates, one from North Dakota and the other from Western Australia. Progeny were phenotyped on a set of four barley genotypes showing a differential reaction to the parental isolates, then genotyped using a restriction site-associated-genotype-by-sequencing (RAD-GBS) approach...
August 7, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28646612/dowling-degos-disease-with-mutation-in-the-exon-1-of-the-keratin-5-gene
#17
LETTER
W Yu, L Gan, J Wu, J Sun, Y Jiang
No abstract text is available yet for this article.
June 24, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28646532/acquired-bilateral-telangiectasia-macularis-eruptiva-perstans-a-unique-clinical-feature-of-photodamaging-rather-than-a-subtype-of-cutaneous-mastocytosis
#18
Hye-Rim Moon, Young Jae Kim, Joon Min Jung, Chong Hyun Won, Mi Woo Lee, Jee Ho Choi, Sung Eun Chang
Telangiectasia macularis eruptiva perstans (TMEP) is a rare subtype of cutaneous mastocytosis, characterized by telangiectatic tan to brown macules on the trunk and extremities. Although TMEP has been descried as an uncommon disease in the literature, we often encounter patients with TMEP lesions in the outpatient clinic. We aimed to assess the clinical and histopathological characteristics of acquired bilateral TMEP, and the pathophysiological mechanism of acquired bilateral TMEP among these patients. We retrospectively reviewed 30 patients (28 men and 2 women) with acquired bilateral TMEP; multiple telangiectatic dark red to brown macules that were symmetrically distributed...
June 23, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28515990/topical-mycophenolate-mofetil-in-the-treatment-of-vitiligo-a-pilot-study
#19
Farhad Handjani, Shahin Aghaei, Iman Moezzi, Nasrin Saki
BACKGROUND: Vitiligo is a multifactorial disease that is characterized by circumscribed depigmented macules and patches. Autoimmune reactions may play an important role in the pathogenesis of the disease. Mycophenolate mofetil is a drug that inhibits DNA synthesis in lymphocytes and has been used in autoimmune diseases such as immunobullous skin diseases, lupus erythematosus, and autoimmune hepatitis. OBJECTIVES: The objective of this study was to show the efficacy of topical mycophenolate mofetil in the treatment of vitiligo...
April 2017: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/28466548/novel-clinical-observations-on-benign-cephalic-histiocytosis-in-a-large-series
#20
Algün Polat Ekinci, Nesimi Buyukbabani, Can Baykal
BACKGROUND/OBJECTIVES: Benign cephalic histiocytosis (BCH) is a rare form of non-Langerhans cell histiocytosis in infants and young children characterized by self-healing macules and papules occurring primarily in the head and neck region. So far there have been nearly 60 reported cases in the English-language literature. METHODS: In this retrospective study, we evaluated clinical features and follow-up data of 11 patients diagnosed with BCH between 2004 and 2016 in the Department of Dermatovenereology, Istanbul Medical Faculty...
May 3, 2017: Pediatric Dermatology
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