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Cafe-Au-Lait Macule

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61. A novel germline POLE mutation causes an early onset cancer prone syndrome mimicking constitutional mismatch repair deficiency Full Text available with Trip Pro

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.

2016 Familial cancer

62. Fibrous dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives Full Text available with Trip Pro

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.

2016 Current osteoporosis reports

63. Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report Full Text available with Trip Pro

on the left side of her trunk. Multiple nonossifying fibromas were found on her left proximal humerus, left distal femur, both proximal tibias, and left proximal fibula, suggesting Jaffe-Campanacci syndrome (JCS), following imaging of the extremities. Many JCS cases with multiple Café-au-lait macules, multiple nonossifying fibromas may actually have Neurofibromatosis type-1 (NF1). Thus, comprehensive molecular analysis to exclude NF1 mutation was performed using her blood sample. The NF1 mutation (...) Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report A 9-year-old Tajikistani girl presented to Keimyung University Dongsan Medical Center for evaluation of a skin lesion on her left eyelid, focal alopecia, unilateral ventricular dilatation, and aortic coarctation. She was diagnosed with encephalocraniocutaneous lipomatosis (ECCL) according to Moog's diagnostic criteria. Café-au-lait spots were found

2016 Annals of pediatric endocrinology & metabolism

64. Ruptured left external carotid artery aneurysm presenting as upper airway obstruction in von Recklinghausen’s disease Full Text available with Trip Pro

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

2016 International journal of surgery case reports

65. McCune–Albright syndrome with craniofacial dysplasia: Clinical review and surgical management Full Text available with Trip Pro

McCune–Albright syndrome with craniofacial dysplasia: Clinical review and surgical management Fibrous dysplasia (FD) is a benign fibro-osseous lesion related to an abnormal bone development and replacement by fibrous tissue. FD has three clinical patterns namely monostotic, polyostotic, and the McCune-Albright syndrome (MAS). MAS is a rare genetic disorder (about 3% of all FD's) that comprises a triad of polyostotic FD, café-au-lait skin macules, and precocious puberty. MAS can involve

2016 Surgical neurology international

66. Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only Full Text available with Trip Pro

by the National Institutes for Health (NIH) criteria which include ≥6 Café au Lait macules (CAL) as a defining criterion. The discovery of SPRED1 as a cause of Legius syndrome which is manifested by CAL, freckling and learning difficulties has introduced substantial heterogeneity to the NIH criteria.We have defined the sensitivity of comprehensive RNA analysis on blood of presumed NF1 patients meeting NIH criteria with at least one nonpigmentary criterion and determined the proportion of children with ≥6 CAL

2016 EBioMedicine

67. Giant elephantiasis neuromatosa in the setting of neurofibromatosis type 1: A case report Full Text available with Trip Pro

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

2016 Oncology letters

68. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1. (Abstract)

of genetically proven CMMRD patients shows that not only multiple café-au-lait macules but also any of the diagnostic features of NF1 may be present in a CMMRD patient. This phenotypic overlap may lead to misdiagnosis of CMMRD patients as having NF1, which impedes adequate management of the patients and their families. The spectrum of CMMRD-associated childhood malignancies includes high-grade glioma, acute myeloid leukaemia or rhabdomyosarcoma, also reported as associated with NF1. Reported associations

2016 Clinical Genetics

69. Comparison of Picosecond and Q-switched Laser for Benign Pigmented Lesions Treatment

Pigmented Lesions Device: Picosecond laser Device: Q-switched Nd:YAG laser Phase 4 Detailed Description: Benign pigmented lesions can be divided into epidermal lesions such as freckles, lentigines, solar lentigines or cafe au lait macules and dermal lesions such as Nevus of Ota or Hori's nevus. Q-switched 532 and 1064 nm lasers were reported to be safe and effective in the treatment of these benign pigmented lesions. By using selective photothermolysis theory, both q-switched 532 and 1064 nm lasers

2016 Clinical Trials

70. 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

71. Plexiform Neurofibroma: A Case Report. Full Text available with Trip Pro

Plexiform Neurofibroma: A Case Report. Plexiform neurofibromas represent an uncommon variant (30%) of neurofibromatosis type 1 (NF-1) in which neurofibromas arise from multiple nerves as bulging and deforming masses involving also connective tissue and skin folds.We report a rare case of a 30-year-old man who presented with a progressive facial deformity that began in early childhood. Skin examination also revealed multiple neurofibromas and café-au-lait macules on the trunk and arms

2016 Medicine

72. Selumetinib in Treating Patients With Neurofibromatosis Type 1 and Plexiform Neurofibromas That Cannot Be Removed by Surgery

to the presence of a PN; NF1 mutation analysis will be performed on germline deoxyribonucleic acid (DNA) as described by Messiaen & Wimmer; histologic confirmation of tumor is not necessary in the presence of consistent clinical and imaging findings, but should be considered if malignant transformation of a PN is clinically suspected; additional criteria are as follows: 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

2015 Clinical Trials

73. Segmental neurofibromatosis presenting with congenital excessive skin folds Full Text available with Trip Pro

Segmental neurofibromatosis presenting with congenital excessive skin folds Segmental neurofibromatosis (SNF) is a rare type of neurofibromatosis (NF-1) resulting from post-zygotic somatic mutations in the neurofibromin gene that leads to mosaicism. Reported manifestations of SNF include neurofibromas, freckling, or café-au-lait spots limited to a single body region or limb. We present a 5-month-old male referred to our clinic for evaluation of congenital excessive skin folds on the back (...) . A mildly erythematous, poorly demarcated soft plaque was noted, consisting of excessive skin folds. A cluster of light brown hyperpigmented macules was seen overlying the plaque. A punch biopsy of the plaque confirmed a diagnosis of neurofibroma. Further investigation ruled out other manifestations of NF-1. The early onset of our patient's neurofibroma and its gross appearance with redundant skin folds are all unusual features. To our knowledge, congenital excessive skin folds found in a single tumor

2015 Dermatology practical & conceptual

74. Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1 Full Text available with Trip Pro

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1 Constitutional heterozygous loss-of-function mutations in the SPRED1 gene cause a phenotype known as Legius syndrome, which consists of symptoms of multiple café-au-lait macules, axillary freckling, learning disabilities, and macrocephaly. Legius syndrome resembles a mild

2015 The Journal of biological chemistry

75. PLX3397 in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN)

of a nerve and may involve multiple fascicles and branches. A spinal PN involves two or more levels with connection between the levels or extending laterally along the nerve. In addition to PN, all study subjects must have either positive genetic testing for NF1 confirmed in a CLIA certified laboratory or have at least one other diagnostic criterion for NF1 listed below (NIH Consensus conference): Six or more cafe-au-lait macules (greater than or equal to 0.5cm in prepubertal subjects or greater than

2015 Clinical Trials

77. Neurofibromatosis type 1 (NF1)

but essentially complete by the age of 20, although the condition is characterized by exceptional phenotypic variability. The most common features of NF1 include café au lait macules (CALMs; flat skin lesions of increased pigmentation), axillary (underarm) or inguinal freckling, cutaneous or subcutaneous neurofibromas (benign tumors of the peripheral nerve sheath), plexiform neurofibromas (tumors that grow along the length of the peripheral nerve), Lisch nodules (benign iris hamartomas), and intellectual

2010 Health Technology Assessment (HTA) Database.

78. Atypical naevus spilus: detection by in vivo confocal microscopy. (Abstract)

Atypical naevus spilus: detection by in vivo confocal microscopy. Naevus spilus (NS) is a naevoid disorder characterized by hyperpigmented macules or papules scattered over a café-au-lait macule. Such café-au-lait macules are often present at birth, and the darker pigmented speckles of NS slowly increase in number and size over a period of several years. NS can therefore be difficult to evaluate clinically for the development of melanoma. In vivo confocal microscopy (IVCM) is a novel method

2014 Clinical & Experimental Dermatology

79. LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. Full Text available with Trip Pro

us to the proper diagnosis.We report a 8-year-old male with multiple café-au-lait macules, several lentigines and dysmorphic features that suggest Noonan syndrome initially diagnosed with Neurofibromatosis-Noonan syndrome. However, after a few years of clinical and ophthalmological follow-up, the absence of typical features of Neurofibromatosis type 1 and the lack of NF1 mutation led us to reconsider the original diagnosis. A new examination of the patient and his similarly affected father, who

2014 BMC Medical Genetics

80. Lasers and laser-like devices: Part two. (Abstract)

Lasers and laser-like devices: Part two. Part two of this review series evaluates the use of lasers and laser-like devices in dermatology based on published evidence and the collective experience of the senior authors. Dermatologists can laser-treat a wide range of dermatoses, including vascular, pigmentary, textural, benign proliferative and premalignant conditions. Some of these conditions include vascular malformation, haemangioma, facial telangiectases, café-au-lait macules, naevi of Ota

2014 Australasian Journal of Dermatology

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