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161. 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

162. Eruptive lentiginosis in resolving psoriatic plaques Full Text available with Trip Pro

States JAAD Case Rep 101665210 2352-5126 ELRP, eruptive lentiginosis in resolving psoriatic plaques IL, interleukin TNF, tumor necrosis factor hyperpigmentation lentigines macules plaque psoriasis 2018 10 16 6 0 2018 10 16 6 0 2018 10 16 6 1 epublish 30320197 10.1016/j.jdcr.2018.07.021 S2352-5126(18)30202-9 PMC6180241 Pigment Cell Melanoma Res. 2012 Mar;25(2):219-30 22136309 Clin Exp Dermatol. 2006 Mar;31(2):298-9 16487125 Pediatr Dermatol. 2015 May-Jun;32(3):e114-7 25727728 Dermatol Online J. 2014

2018 JAAD Case Reports

163. 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

164. Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria Full Text available with Trip Pro

Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small macules on the extremities. Heterozygous mutations in the adenosine deaminase acting on RNA1 gene (ADAR1) cause DSH. In the present study, we report five cases of DSH and identify a distinct known mutation in each patient. Furthermore (...) , we review previously described cases with the five ADAR1 mutations found in the present study. We reviewed clinical and molecular findings in the present and previously reported cases and found an identical mutation can result in various phenotypic severities, even in one family. We found novel phenotype-genotype correlations between the presence/absence of facial lesions and the ADAR1 mutation c.3286C>T. The absence of freckle-like macules in the face was found to be more commonly associated

2018 Nagoya Journal of Medical Science

165. Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review Full Text available with Trip Pro

-reticulated atrophic macules and patches in a linear pattern distributed along the lines of Blaschko over the right side of the face and the right arm. Also she is having hypoplasia of the right breast with dental enamel abnormality and partial anodontia in the lower jaw. Sparse hair and partial alopecia on the right side (scalp, eyebrows, and eyelashes) were also observed.

2018 Case reports in dermatology

166. Clinical Features and Treatment Outcomes among Children with Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A 20-Year Study in a Tertiary Referral Hospital Full Text available with Trip Pro

patients (M : F, 16 : 20) with the mean age of 9.2 ± 4.0 years were identified. There were 20 cases of SJS, 4 cases of SJS-TEN overlap, and 12 cases of TEN. Drugs were the leading cause for the diseases (72.3%); antiepileptics were the most common culprits (36.1%). Cutaneous morphology at presentation was morbilliform rash (83.3%), blister (38.9%), targetoid lesions (25.0%), and purpuric macules (2.8%). Oral mucosa (97.2%) and eye (83.3%) were the 2 most common mucosal involvements. Majority

2018 Dermatology research and practice

167. Blaschko-linear “Congenital Mixed Hemato-lymphangio-keratoma Serpiginosum” Naeviforme: A New Hybrid Entity or Various Morphological Reflections of the Two Different Vascular Abnormalities? Full Text available with Trip Pro

-yellowish papules; 3) bright-red grouped papules; 4) keratotic-surfaced grouped dark-red papules; and 5) patchy, punctate, and erythematous red macules. All of the lesions were intertwined along the lines of Blaschko and were in the form of irregular serpiginous plaques. Histopathological examinations of the lesions showed three main histological features, and diagnoses of the lesions were made as lymphangioma circumscriptum, lymphangiokeratoma, and verrucous hemangioma. To the best of our knowledge

2018 The Journal of clinical and aesthetic dermatology

168. Vestibular Injury After Low-Intensity Blast Exposure Full Text available with Trip Pro

damage to both the peripheral and central vestibular system; similar to previous findings that blast exposure results in damage to auditory receptors. In this study, mice were exposed to a 63 kPa peak blast-wave over pressure and were examined for vestibular receptor damage as well as behavioral assays to identify vestibular dysfunction. We observed perforations to the tympanic membrane in all blast animals. We also observed significant loss of stereocilia on hair cells in the cristae and macule up

2018 Frontiers in neurology

169. 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

170. 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

171. Clinicopathologic findings of guttate leukoderma in Darier disease: A helpful diagnostic feature Full Text available with Trip Pro

of Medicine, Gainesville, Florida. eng Case Reports 2018 03 06 United States JAAD Case Rep 101665210 2352-5126 DD, Darier disease Darier disease GL, guttate leukoderma IGH, idiopathic guttate hypomelanosis guttate leukoderma hypopigmented macules keratosis follicularis 2018 4 25 6 0 2018 4 25 6 0 2018 4 25 6 1 epublish 29687067 10.1016/j.jdcr.2017.09.021 S2352-5126(17)30230-8 PMC5909488 J Eur Acad Dermatol Venereol. 2016 Dec;30(12 ):e205-e209 26853929 J Am Acad Dermatol. 1992 Jul;27(1):40-50 1619075 Am J

2018 JAAD Case Reports

172. Case Report: “Incognito” proteus syndrome Full Text available with Trip Pro

and a series of subtle clinical signs, such as asymmetric face, scoliosis, multiple lipomas on the trunk, linear verrucous epidermal nevi, and hyperpigmented macules with a mosaic distribution. Even if the clinical presentation was elusive, she had enough criteria to be diagnosed with PS. This case describes the first evidence, to the best of our knowledge, of pauci-symptomatic PS in adulthood, reports its rare association with advanced melanoma, and illustrates the importance of even minor cutaneous

2018 F1000Research

173. Which egg features predict egg rejection responses in American robins? Replicating Rothstein's (1982) study Full Text available with Trip Pro

evaluated with replication. Here, we partially replicated Rothstein's (1982) experiments using parallel artificial model egg treatments to simulate cowbird (Molothrus ater) parasitism in American robin (Turdus migratorius) nests. We compared our data with those of Rothstein (1982) and confirmed most of its original findings: (1) robins reject model eggs that differ from the appearance of a natural robin egg toward that of a natural cowbird egg in background color, size, and maculation; (2) rejection (...) of cowbird eggs. Future work on egg recognition will benefit from utilizing a range of model eggs varying continuously in background color, maculation patterning, and size in combination with avian visual modeling, rather than using model eggs which vary only discretely.

2018 Ecology and evolution

174. Cutaneous Neonatal Lupus Erythematosus: A Case Report Full Text available with Trip Pro

Cutaneous Neonatal Lupus Erythematosus: A Case Report Cutaneous neonatal lupus erythematosus (NLE) is a rare condition caused by the passive transfer of autoantibodies from mother to fetus. The disease most commonly presents itself with multiple erythematosus annular lesions or arcuate macules. In 10% of the cases, a cardiac anomaly can coexist. Appropriate diagnosis and laboratory and cardiac testing should be done to rule out any complications. Treatment usually includes topical steroids

2018 Cureus

175. 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

176. 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

177. Stevens - Johnson Syndrome and Toxic Epidermal Necrolysis; Extensive Review of Reports of Drug-Induced Etiologies, and Possible Therapeutic Modalities Full Text available with Trip Pro

Stevens - Johnson Syndrome and Toxic Epidermal Necrolysis; Extensive Review of Reports of Drug-Induced Etiologies, and Possible Therapeutic Modalities Stevens - Johnson Syndrome and Toxic Epidermal Necrolysis are adverse hypersensitivity reactions that affect the skin and mucous membranes. They are characterised by erythematous macules and hemorrhagic erosions of the mucous membranes. Epidermal detachments of varying degrees of severity also occur in these conditions. Various aetiologies

2018 Open access Macedonian journal of medical sciences

178. Eruptive lentiginosis in resolving psoriatic plaques Full Text available with Trip Pro

Reports Retracted Publication 2018 03 31 United States JAAD Case Rep 101665210 2352-5126 JAAD Case Rep. 2018 Sep 18;4(8):841 30238053 ELRP, eruptive lentiginosis in resolving psoriatic plaques IL, interleukin TNF, tumor necrosis factor hyperpigmentation lentigines macules plaque psoriasis 2018 4 26 6 0 2018 4 26 6 0 2018 4 26 6 1 epublish 29693059 10.1016/j.jdcr.2017.10.009 S2352-5126(17)30261-8 PMC5911780 Pigment Cell Melanoma Res. 2012 Mar;25(2):219-30 22136309 Clin Exp Dermatol. 2006 Mar;31(2):298

2018 JAAD Case Reports

179. Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans. Full Text available with Trip Pro

Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans. Amyloidosis cutis dyschromica (ACD) is a distinct form of primary cutaneous amyloidosis characterized by generalized hyperpigmentation mottled with small hypopigmented macules on the trunks and limbs. Affected families and sporadic case subjects have been reported predominantly in East and Southeast Asian ethnicities; however, the genetic cause has not been elucidated. We report here that the compound (...) -positive amyloid deposits in the papillary dermis and infiltrating macrophages compared with hypo- or depigmented macules. Depigmentation of the lesions was attributable to loss of melanocytes. Intracytoplasmic fibrillary aggregates were observed in keratinocytes scattered in the lesional epidermis. Thus, our analysis indicates that loss of GPNMB, which has been implicated in melanosome formation, autophagy, phagocytosis, tissue repair, and negative regulation of inflammation, underlies autosomal

2018 American Journal of Human Genetics

180. Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. Full Text available with Trip Pro

macules and other pigmentation alterations. We report on a 13-month-old girl suspected of having CMMRD due to a desmoplastic medulloblastoma and a striking skin pigmentation that included multiple café-au-lait macules, hypopigmented areas and Mongolian spots. Whole-exome sequencing revealed homozygosity for MSH2 variant p.(Leu92Val) and MSH6 variant p.(Val809del), both variants of uncertain significance (VUS). Immunohistochemical analysis of the tumour tissue showed expression of all four MMR proteins

2018 European Journal of Human Genetics

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