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Cafe-Au-Lait Macule

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41. 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

2018 Journal of Clinical Endocrinology and Metabolism

42. 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

43. Gigantism in a McCune-Albright’s syndrome with calcified GH-releasing pituitary adenoma: Case report and literature review (PubMed)

Gigantism in a McCune-Albright’s syndrome with calcified GH-releasing pituitary adenoma: Case report and literature review McCune-Albright's syndrome (MAS) is a rare disorder that is characterized by café-au-lait macules, fibrous dysplasia of the skull and endocrinopathies like excessive secretion of growth hormone by a hyper-functional pituitary adenoma (PA).We describe the case of a 43-year-old male with history of Gigantism in 1990 secondary to a GH-secreting pituitary macroadenoma

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2018 International journal of surgery case reports

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

46. 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

47. 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

48. 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

49. 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

50. 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

51. 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

52. 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

53. 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

54. 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

55. 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

56. Ruptured left external carotid artery aneurysm presenting as upper airway obstruction in von Recklinghausen’s disease (PubMed)

Ruptured left external carotid artery aneurysm presenting as upper airway obstruction in von Recklinghausen’s disease Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder characterized by café-au-lait macules, neurofibromas, and iris hamartomas. Carotid artery aneurysms rarely affect patients with NF-1 but may be associated with rupture. We report the first episode of a ruptured external carotid aneurysm with severe life-threatening airway obstruction in a NF-1 patient.We report

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2016 International journal of surgery case reports

57. A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency (PubMed)

phenotype than previously reported POLE and POLD1 germline mutations. The patient had multiple café-au-lait macules and a pilomatricoma mimicking the clinical phenotype of constitutional mismatch repair deficiency. We hypothesize that these skin features may be common to different types of constitutional DNA repair defects associated with polyposis and early-onset cancer.

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2016 Familial cancer

58. Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report (PubMed)

lymphedema. The present study reports the clinical and biomolecular features of EN in a NF1 patient with the clear clinical diagnostic criteria of multiple cafè-au-lait macules, neurofibromas, EN, a positive family history and a novel NF1 germline c.1541_1542del mutation. Lymphoscintigraphy (LS) highlighted marked dermal backflow in the affected limb, hypertrophy of the ipsilateral inguinal and external iliac lymph nodes, and a bilateral lower limb lymph flow delay. These data support the hypothesis

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2016 Oncology letters

59. Fibrous dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives (PubMed)

lesions with abnormal bone matrix, trabeculae, and collagen, produced by undifferentiated mesenchymal cells. FD may occur in isolation or in combination with extraskeletal manifestations, including hyperfunctioning endocrinopathies and café-au-lait macules, termed McCune-Albright syndrome (MAS). This review summarizes current clinical and translational perspectives in FD/MAS, with an emphasis on FD pathogenesis, natural history, pre-clinical and clinical investigation, and future directions.

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2016 Current osteoporosis reports

60. Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Cutaneous Neurofibroma

of Health (NIH) consensus criteria; in addition to substantial cutaneous neurofibroma burden, at least one of the criteria below have to be present: Six or more cafe-au-lait macules (>= 0.5 cm in prepubertal subjects or >= 1.5 cm in post pubertal subjects) Freckling in axilla or groin Optic glioma Two or more Lisch nodules A distinctive bony lesion (dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex) A first-degree relative with NF1 Histologic confirmation of tumor (...) Intervention/treatment Phase Cafe Au Lait Spot Cutaneous Neurofibroma Dysplasia Lisch Nodule Neurofibromatosis Type 1 NF1 Gene Mutation Optic Nerve Glioma Other: Laboratory Biomarker Analysis Drug: Selumetinib Phase 2 Detailed Description: PRIMARY OBJECTIVES: I. Determine if selumetinib can result in shrinkage cutaneous neurofibromas. SECONDARY OBJECTIVES: I. Assess the effect of selumetinib on target inhibition in cutaneous neurofibroma(s) excised prior treatment and on treatment with selumetinib

2016 Clinical Trials

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