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181. Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1 Full Text available with Trip Pro

that exhibits clinical hallmarks of NF1, including café au lait macules, neurofibromas, and optic pathway glioma. Spontaneous loss of heterozygosity is observed in this model, a phenomenon also described in NF1 patients. Oral administration of a mitogen-activated protein kinase/extracellular signal-regulated kinase inhibitor suppresses Ras signaling. To our knowledge, this model provides an unprecedented opportunity to study the complex biology and natural history of NF1 and could prove indispensable

2018 Communications Biology

182. Epidemiology of Kaposi sarcoma: review and description of the nonepidemic variant. (Abstract)

Epidemiology of Kaposi sarcoma: review and description of the nonepidemic variant. Kaposi sarcoma (KS) is a rare angioproliferative tumor whose etiology is associated with human herpesvirus 8 (HHV 8). KS lesions typically involve the skin or mucosal surfaces and are characterized by purplish, red-blue, or brown-black macules, papules, and nodules which are prone to bleeding and ulceration. Definitive diagnosis requires biopsy revealing characteristic angioproliferative features. There are four

2018 International Journal of Dermatology

183. A cross-sectional study of sweat-induced dermatitis during a South Indian summer: a glimpse of sweat gland-mediated cutaneous inflammation. Full Text available with Trip Pro

dermatitis" presenting with dry, hyperpigmented, fissured "parchment"-like skin, shiny "crinkled cellophane paper"-like skin, or asymptomatic hyperpigmented macules was seen. Other atypical presentations included miliaria pustulosa with "hypopyon sign" and "linear and parallel ridge pattern" of dermatitis in patients with miliaria rubra affecting the lower neck and upper chest.A wide spectrum of sweat-induced dermatitis was seen during the summer months in a tropical region. It reflects the role

2018 International Journal of Dermatology

184. Corkscrew retinal vessels and retinal arterial macroaneurysm in a patient with neurofibromatosis type 1: A case report. Full Text available with Trip Pro

with 2 simultaneous vascular abnormalities, involving tiny spiral venous changes (corkscrew retinal vessels) and retinal arterial macroaneurysms. Our patient was diagnosed with NF-1 as she met the following National Institutes of Health consensus criteria for the diagnosis of NF-1: more than 6 cafe au lait macules, of a maximum diameter ≥15mm, 2 neurofibromas within the dermis, and Lisch nodules on the iris.Retinal arterial macroaneurysm in the left eye, corkscrew retinal vessels related to NF-1

2018 Medicine

185. Decreased choroidal thickness in vitiligo patients. Full Text available with Trip Pro

Decreased choroidal thickness in vitiligo patients. Vitiligo is a disease characterized by depigmented macules and patches that occur as a result of the loss of functional melanocytes from the affected skin through a mechanism which has not been elucidated yet. Destruction of pigment cells in vitiligo may not remain limited to the skin; the eyelashes, iris, ciliary body, choroid, retinal pigment epithelium and meninges may also be affected. This study aims to compare the choroidal thickness

2018 BMC Ophthalmology

186. Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. Full Text available with Trip Pro

with hypopigmented macules involving the face, neck and extremities, hyperkeratosis of palms and soles, nail dystrophy, leukoplakia of the tongue, premature graying of hair, watery eyes and dental caries. Several of his male relatives, including two maternal uncles and three maternal cousins were affected with a similar type of disease condition. Pedigree analysis suggested a possible X-linked pattern of inheritance. Genetic testing in the proband showed a novel hemizygous, non-synonymous likely pathogenic

2018 BMC Medical Genetics

187. A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family. Full Text available with Trip Pro

TSC family with two siblings presenting with multiple hypomelanotic macules, cardiac rhabdomyomas and cortical tubers associated with a small subependymal nodule. The older child had seizures. A novel heterozygous missense variant in the TSC2 gene (c.899G > T, p.G300 V) was identified and shown to be inherited from their father as well as paternal grandfather, both of whom presented with variable TSC-associated signs and symptoms.We identified a novel heterozygous TSC2 variant c.899G > T

2018 BMC Medical Genetics

188. Oral lichen sclerosus: an overview and report of three cases. (Abstract)

lichen sclerosus should be included in the differential diagnosis of porcelain- or ivory-white macules. Here we present three new cases of oral lichen sclerosus. A review of these cases and the previously reported cases revealed that oral lichen sclerosus is slightly more common in women and can affect individuals of any age. Oral lesions of lichen sclerosus usually do not require treatment, except when there are significant symptoms or aesthetic complaint. Almost 50% of the patients with oral lichen

2018 International Journal of Oral and Maxillofacial Surgery

189. Treatment of Seborrheic Dermatitis: A Comprehensive Review. (Abstract)

Treatment of Seborrheic Dermatitis: A Comprehensive Review. Seborrheic dermatitis (SD) is a chronic, recurring inflammatory skin disorder that manifests as erythematous macules or plaques with varying levels of scaling associated with pruritus. The condition typically occurs as an inflammatory response to Malassezia species and tends to occur on seborrheic areas, such as the scalp, face, chest, back, axilla, and groin areas. SD treatment focuses on clearing signs of the disease; ameliorating

2018 Journal of Dermatological Treatment

190. The value of 18F-FDG PET/CT in patient with neurofibromatosis type 1: A case report and literature review. Full Text available with Trip Pro

presented with numerous lentigines and multiple café-au-lait macules on his body.These were collagen neurofibroma, which were definitively diagnosed by pathology. NF1 was eventually diagnosed.These lesions were abnormal uptake of radiotracer, when he underwent positron emission tomography (PET) with fluorine-18-fluorodeoxyglucose (FDG) scanning. Standard uptake value (SUV) and other parameters can help to distinguish benign and malignant lesions in patient with NF1. He was underwent serials F-FDG PET/CT

2018 Medicine

191. Interferon alpha as antiviral therapy in chronic active Epstein-Barr virus disease with interstitial pneumonia - case report. Full Text available with Trip Pro

blood, isolated peripheral blood lymphocytes as well as in the blood plasma. Cytokine assessment in peripheral blood revealed the lack of IFN-alpha synthesis. Disseminated maculate infiltrative areas in both lungs were observed on a computed tomography (CT) chest scan. The patient was not qualified for the allogeneic hematopoietic stem cell transplantation (allo-HSCT) due to the risk of immunosuppression-related complications of infectious IP. Inhaled (1.5 million units 3 times a day

2018 BMC Infectious Diseases

192. Association rare: lichen scléroatrophique extragénital et vitiligo inflammatoire chez un enfant Full Text available with Trip Pro

Association rare: lichen scléroatrophique extragénital et vitiligo inflammatoire chez un enfant Scleroatrophic lichen (SL) and vitiligo are two depigmenting disorders which may occur separately or, rarely, in combination. Their association may seem logical because both these disorders are characterized by the suspicion of an autoimmune pathogenesis. We here report the case of a 8-year old girl, with no notable medical history, presenting with achromic macules and papular nonpruritic lesions (...) evolving over 6 months. Clinical examination showed two types of lesions (A): ovalaire achromic macules measuring 1-3 cm along their longer axis, located at the level of the front, of the neck, of the shoulders, as well as of the peri-mamelonar and of the genital region. These lesions exhibited slightly raised peripheral inflammatory border as well as a poliosis. The patient also had pearly white atrophic papular plaques at the level of the interscapular and abdominal regions as well as of the anterior

2018 The Pan African medical journal

193. Epidermodysplasie verruciforme: à propos d’un cas Full Text available with Trip Pro

Epidermodysplasie verruciforme: à propos d’un cas Epidermodysplasia verruciformis, also known as Lewandowsky-Lutz syndrome or tree man disease is a rare genetic skin disorder. It is characterized by abnormal susceptibility of the skin coating to human papillomaviruses (HPVs). It commonly affects people between the ages of 4 and 8, most often before the age of 20 years but it may exceptionally occur later. It is characterized by the appearance of scaly macules and sometimes exuberant

2018 The Pan African medical journal

194. Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma Full Text available with Trip Pro

Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma We report an atypical tuberous sclerosis complex (TSC) phenotype presenting as familial multiple renal cell carcinomas (RCCs) with (angio)leiomyomatous stroma (RCCLS) (5/7 familial RCCs) on a background of multiple angiomyolipomas, hypopigmented skin macules, and absence of neurological anomalies. In the index case and three relatives, germline genetic testing identified a heterozygous TSC2

2018 The Journal of Pathology: Clinical Research

195. Prevalence and Distribution of Oral Mucosal Lesions by Sex and Age Categories: A Retrospective Study of Patients Attending Lebanese School of Dentistry Full Text available with Trip Pro

years with a mean age of 40.1 years. Among these subjects, 110 (61.8%) presented with one or more lesions. All patients were Lebanese. The most common lesion diagnosed was coated/hairy tongue affecting 17.4% of the subjects, followed by melanotic macule (11.2%), gingivitis (9.6), linea alba (6.2%), tongue depapillation (5.1), leukoplakia (5.1), traumatic fibroma (4.5), frictional keratosis (3.9%), fissured tongue (3.9%), hemangiomas (3.9%), Fordyce granules (3.9%), dry mucosa (3.4), angular

2018 International journal of dentistry

196. Spontaneous splenic rupture complicating primary varicella zoster infection: a case report Full Text available with Trip Pro

, presented with a 2 day history of sudden onset, worsening generalised abdominal pain and a 1 day history of vomiting. The following day he developed fevers and a generalised widespread erythematous rash consisting of clusters of macules, papules and vesicles at different stages of development. There was no history of sore throat, coryza, arthralgia, myalgia, cough, shortness of breath, weight loss, or night sweats. There was no recent illness and no history of trauma. CT abdomen showed splenic rupture

2018 BMC research notes

197. Olmutinib Induced Lichen Planus Like Eruption Full Text available with Trip Pro

Olmutinib Induced Lichen Planus Like Eruption Drug induced lichen planus like eruption is an uncommon cutaneous adverse effect of several drugs. This appears symmetric eruption of erythematous or violaceous plaques resembling lichen planus on the trunk and extremities. A 50-year-old male presented with scaly, violaceous plaques and dusky brown macules on whole body. For four months, the patient was treated with olmutinib, an oral, third-generation epidermal growth factor receptor-tyrosine

2018 Annals of dermatology

198. Incidence of tuberous sclerosis and age at first diagnosis: new data and emerging trends from a national, prospective surveillance study Full Text available with Trip Pro

macules in 92%) and cardiac rhabdomyoma in half of the patients. Cardiac rhabdomyoma were detected by prenatal ultrasonography in 22.1% of patients. The presence of cardiac rhabdomyoma was associated with cardiac arrhythmias in 25.6% (about 13% of all diagnosed patients) in our cohort. The overall prevalence of seizure disorders was 69.8%. The annual incidence rate of TSC is estimated at a minimum of 1:17.785 live births. However correcting for underreporting, the estimated incidence rate of definite

2018 Orphanet journal of rare diseases

199. Prurigo Pigmentosa: A Clinicopathological Report of Three Middle Eastern Patients Full Text available with Trip Pro

Prurigo Pigmentosa: A Clinicopathological Report of Three Middle Eastern Patients Prurigo pigmentosa is a unique cutaneous inflammatory disorder characterized by a sudden onset of pruritic and erythematous macules, urticarial papules, and plaques that may coalesce to form a reticulated pattern. Lesions typically heal within weeks leaving a reticulated and mottled postinflammatory hyperpigmentation. The majority of reported cases originate from Japan with much fewer cases described worldwide

2018 Case reports in dermatological medicine

200. Red nodular melanoma of the penile foreskin: A case report and literature review Full Text available with Trip Pro

Red nodular melanoma of the penile foreskin: A case report and literature review The penis is an extremely rare primary site for malignant melanomas, and the clinical presentation may vary greatly. We herein present the case of a 71-year-old male patient who presented with a 6-year history of two slow growing, asymptomatic red macules on the penile foreskin. On physical examination, the mobility of the foreskin was good, and there was no metastasis on computed tomography and magnetic resonance

2018 Molecular and clinical oncology

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