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Cafe-Au-Lait Macule

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41. The endovascular management of neurofibromatosis-associated aneurysms: A systematic review.

The endovascular management of neurofibromatosis-associated aneurysms: A systematic review. Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple café-au-lait macules, benign neurofibromas, and iris hamartomas. Albeit less common, vascular lesions of medium and large-sized arteries and veins are a well-recognized complication, which can lead to fatal consequences such as rupture.A

2018 European journal of radiology

42. Dermoscopy in Diagnosis of Pigmentary Skin Lesions

, psoriasis, atopic and contact dermatitis, lichen planus, trauma, drugs, and fixed-drug eruptions) Melasma Solar lentigines Ephelides (freckles) Café-au-lait macules Nevi Melanoma and precursors Acquired (common) Vitiligo Pityriasis alba Tinea versicolor Postinflammatory hypopigmentation Congenital (uncommon) Albinism Piebaldism Tuberous sclerosis Hypomelanosis of Ito Several studies have shown that dermoscopy may come in very handy for assisting the noninvasive diagnosis of various general

2018 Clinical Trials

43. Dermatological manifestations in Noonan syndrome: A prospective multicentric study of 129 mutation-positive patients. (PubMed)

, multicentric, collaborative dermatological and genetic study.Overall, 129 patients with NS were enrolled, including 65 patients with PTPN11-NS, 34 patients with PTPN11-NS with multiple lentigines (NSML), and 30 patients with NS who had a mutation other than PTPN11. Easy bruising was the most frequent dermatological finding in PTPN11-NS, present in 53·8% of patients. Multiple lentigines and café-au-lait macules (n ≥ 3) were present in 94% and 80% of cases of NSML linked to specific mutations of PTPN11

2018 British Journal of Dermatology

44. The value of 18F-FDG PET/CT in patient with neurofibromatosis type 1: A case report and literature review. (PubMed)

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

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2018 Medicine

45. Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. (PubMed)

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 (...) Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (MMR) genes. The spectrum of CMMRD-associated tumours is very broad and many CMMRD patients additionally display signposting non-neoplastic features, most frequently café-au-lait

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2018 European Journal of Human Genetics

46. Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome. (PubMed)

Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome. McCune-Albright syndrome (MAS) is a rare disorder characterized by fibrous dysplasia of bone, café-au-lait macules, and hyperfunctioning endocrinopathies. It arises from somatic gain-of-function mutations in GNAS, which encodes the cAMP-regulating protein Gαs. Somatic GNAS mutations have been reported in intraductal papillary mucinous neoplasms (IPMNs) and various gastrointestinal (GI) tumors. The clinical

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2018 Journal of Clinical Endocrinology and Metabolism

47. Corkscrew retinal vessels and retinal arterial macroaneurysm in a patient with neurofibromatosis type 1: A case report. (PubMed)

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

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2018 Medicine

48. Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency | JMG Contact blog by Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessive cancer predisposition syndrome, causing café au lait macules, brain malformations and and multiple tumors, mostly leukemia/ lymphoma, brain, and gastrointestinal cancer in the first two decades

2019 JMG Contact blog

49. Routine newborn assessment

just above the natal cleft (less than 2.5 cm from anus and less than 5 mm wide) • Single café-au-lait spot • Single ash leaf macule • Third fontanelle • Capillary haemangioma apart from those described in table above • Accessory nipples 3.2 Consultation and follow-up Clinical judgement is required to determine the appropriate urgency of follow-up in the context of abnormal or suspicious findings arising from a newborn assessment. If there is uncertainty about the urgency of follow-up in relation (...) on the appropriate centile charts: o Weight o Length o Head circumference • Excessive weight loss ? Bilious vomiting Skin • Colour • Trauma • Congenital or subcutaneous skin lesions • Oedema ? Any jaundice at less than 24 hours of age ? Central cyanosis • Petechia not fitting with mode of birth • Pallor • More than 3 café-au-lait spots in a Caucasian, more than 5 in a black African newborn • Multiple haemangioma • Haemangioma on nose or forehead (in distribution of ophthalmic division of trigeminal nerve

2014 Queensland Health

50. The NF1 somatic mutational landscape in sporadic human cancers (PubMed)

cutaneous lesions including neurofibromas and café-au-lait macules, as well as a predisposition to various types of malignancy, such as breast cancer and leukaemia. However, acquired somatic mutations in NF1 are also found in a wide variety of malignant neoplasms that are not associated with NF1.Capitalizing upon the availability of next-generation sequencing data from cancer genomes and exomes, we review current knowledge of somatic NF1 mutations in a wide variety of tumours occurring at a number

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2017 Human Genomics

51. Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient (PubMed)

Rare Presentation of Neurofibromatosis and Turner Syndrome in a Pediatric Patient Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS.

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2017 Pediatric reports

52. Treatment of Laser Therapy-Induced Punctate Leukoderma Using a 308-nm Excimer Laser (PubMed)

-Garnet laser treatment for café-au-lait macules three years ago. After the last laser treatment session, the punctate leukoderma had been developed. We started treatment with the 308-nm excimer laser twice a week. After 7 months of treatment duration, complete repigmentation was achieved without serious adverse effects. We recommend the 308-nm excimer laser as an effective treatment modality for laser therapy-induced punctate leukoderma. (...) Treatment of Laser Therapy-Induced Punctate Leukoderma Using a 308-nm Excimer Laser Punctate leukoderma presents as numerous, distinct, round or oval depigmented spots. Recently, laser therapy-induced punctate leukoderma associated with various Q-switched laser and carbon dioxide laser have been reported. A 25-year-old man presented with numerous, discrete, round, confetti-like, depigmented macules on his left neck. He had undergone 3 sessions of 532-nm Q-switched Neodymium: Yttrium-Aluminum

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2017 Annals of dermatology

53. Secondary aneurysmal bone cyst in McCune-Albright syndrome (PubMed)

Secondary aneurysmal bone cyst in McCune-Albright syndrome Polyostotic fibrous dysplasia in combination with caféau-lait macules and hyperfunctioning endocrinopathies consists of a rare clinical condition termed as McCune-Albright syndrome. Aneurysmal bone cysts are tumor-like cystic lesions, composed of blood-filled compartments. They may occur as primary lesions or secondary to other pathologies; most commonly giant cell tumors of bone. However, secondary aneurysmal bone cysts in McCune

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2017 Clinical Cases in Mineral and Bone Metabolism

54. Intermittent Dosing Of Selumetinib In Childhood NF1 Associated Tumours

. worsening visual function as per REiNS) or MRI based significant radiological progression and has had at least two lines of standard therapy. In addition, all study subjects (phase I and II) must have either positive genetic testing for NF1 from a certified laboratory or have at least one other diagnostic criterion for NF1 listed below: Six or more café-au-lait macules (≥0.5cm in prepubertal subjects or ≥1.5 cm in post pubertal subjects) Freckling in axilla or groin Optic glioma Two or more Lisch

2017 Clinical Trials

55. Use of Topical Liquid Diclofenac Following Laser Microporation of Cutaneous Neurofibromas in Patients With NF1

and older (Adult, Older Adult) Sexes Eligible for Study: All Accepts Healthy Volunteers: No Criteria Inclusion Criteria: Adults of both genders, between the ages of 18 and 65; NF1, diagnosed clinically by a neurologist, dermatologist, or other specialist knowledgeable about the disease, and defined as: A known mutation in the gene coding for neurofibromin or, the presence of 2 of the following 7 clinical manifestations of NF1: ≥ 6 café-au-lait macules on the body with diameters greater than 15mm

2017 Clinical Trials

56. Mitogen Activated Protein Kinase Kinase (MEK1/2) Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate) in People With Neurofibromatosis Type 1 (NF1) Mutated Gastrointestinal Stromal Tumors (GIST)

of the NF1 mutation in the GIST is required for enrollment. a) For a clinical diagnosis of NF1 patients must have at least two of the diagnostic criteria for NF1 listed below Six or more cafe-au-lait macules (greater or equal to 0.5cm in prepubertal subjects or greater than or equal to 1.5 cm in post pubertal subjects) Freckling in axilla or groin A neurofibroma or plexiform neurofibroma Optic glioma Two or more Lisch nodules A distinctive bony lesion (dysplasia of the sphenoid bone or dysplasia

2017 Clinical Trials

57. Lady with wings: a case report of giant neurofibromatosis type I. (PubMed)

Lady with wings: a case report of giant neurofibromatosis type I. 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.A 32-year-old lady presented with a giant wing like structure on her back which started growing from her childhood.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.Surgical excision of tumor and multiple Z plasty reconstruction of the back was carried out.The excised neurofibroma weighed 6.7 kg containing thickened nerves, nerve roots, and circuitous vessels. The histopathological report confirmed plexiform and diffuse type cutaneous neurofibroma without any malignant transformation. Surgical excision and reconstruction with regular follow-up is an excellent choice

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2017 Medicine

58. Constitutional mismatch repair deficiency in a healthy child: on the spot diagnosis? (PubMed)

Constitutional mismatch repair deficiency in a healthy child: on the spot diagnosis? Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by biallelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case

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2017 Clinical Genetics

59. Endovascular management of renal artery aneurysms induced by neurofibromatosis type 1: A case report. (PubMed)

Endovascular management of renal artery aneurysms induced by neurofibromatosis type 1: A case report. Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by cafe au lait macules and neurofibromatosis. Renal artery aneurysms are relatively uncommon. Endovascular techniques are effective in treating renal aneurysms but successful cases are rarely reported in NF-1 adults.The patient was one 23-year-old female presented with hypertension, multiple café-au-lait spots ≥15

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2017 Medicine

60. Brown Skin Lesion

Skin Lesion , Black Skin Lesion , Skin Lesion Solid Brown , Skin Lesion Solid Black II. Causes: Patches or Plaques Cafe-au-lait patches III. Causes: Macules/Papules/Nodules ( ) s IV. Causes: Generalized Hyperpigmentation See Images: Related links to external sites (from Bing) These images are a random sampling from a Bing search on the term "Brown Skin Lesion." Click on the image (or right click) to open the source website in a new browser window. Related Studies (from Trip Database) Related Topics

2018 FP Notebook

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