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213 results for

Cafe-Au-Lait Macule

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201. Bloom syndrome

erythema appears during the first 1-2 years of life on the face (in particular the cheek), dorsum of the hands and other sun-exposed areas. Caf�-au-lait macules and hypopigmented skin lesions are common. Children with BSyn characteristically feed slowly, have a decreased appetite and eat a limited variety of foods. Despite nutritional interventions, weight gain is modest and children are rarely in the normal range for growth. One major feature of Bsyn is a greatly increased predisposition to cancers

2005 Orphanet

202. Natural History and Biology of Skin Neurofibromas in Neurofibromatosis Type 1

to 99 Years (Adult, Older Adult) Sexes Eligible for Study: All Accepts Healthy Volunteers: No Sampling Method: Probability Sample Study Population Men and women between 20 and 50 years of age diagnosed with NFl and their biological parents are eligible for this study.@@@ Criteria -INCLUSION CRITERIA - GROUP A INDIVIDUALS: Clinical diagnosis of NF1. In order to meet the diagnosis of NF1 individuals must have 2 of the diagnostic criteria listed below: Six or more cafe-au-lait macules (greater than

2006 Clinical Trials

203. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. (PubMed)

Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. A girl with aniridia, microphthalmia, microcephaly and café au lait macules was found to have mutations in PAX6, NF1 and OTX2. A novel PAX6 missense mutation (p.R38W) was inherited from her mother whose iris phenotype had not been evident because of ocular neurofibromatosis. Analysis of the NF1 gene in the proband, prompted by the mother's diagnosis and the presence of café au lait spots, revealed a nonsense

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2007 European Journal of Human Genetics

204. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. (PubMed)

-associated clinical manifestations (neurofibromas only, pigmentary changes only, and association of both symptoms). For each patient, various tissues and cell types were tested with comprehensive and quantitative assays capable of detecting low-percentage NF1 mutations. This approach confirmed the biallelic NF1 inactivation in Schwann cells in neurofibromas and, for the first time, demonstrated biallelic NF1 inactivation in melanocytes in NF1-related cafe-au-lait macules. Interestingly, both disease

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2007 American Journal of Human Genetics

205. Pigmented plexiform neurofibroma: Distinction from a large congenital melanocytic nevus. (PubMed)

and plexiform neurofibroma in the same area, numerous café-au-lait macules, and intertriginous freckling. The latter findings were diagnostic of neurofibromatosis-1, which was further supported by the presence of unidentified bright objects on magnetic resonance imaging of the brain. Histologic examination of the hyperpigmented plaque revealed melanocytic hyperplasia at the dermoepidermal junction and a proliferation of rounded, pigmented melanocytes dispersed individually and in occasional small nests

2007 Journal of American Academy of Dermatology

206. Oophorectomy in McCune-Albright syndrome: a case of mistaken identity. (PubMed)

Oophorectomy in McCune-Albright syndrome: a case of mistaken identity. The objective of the study was to determine the incidence of oophorectomy in girls presenting with precocious puberty and vaginal bleeding who are subsequently diagnosed with McCune-Albright syndrome (MAS).Medical records of girls diagnosed with MAS between 1988 and 2005 were reviewed. Variables analyzed included presenting features, presence of café au lait macules, presence of fibrous dysplasia, radiographic studies (...) , estradiol levels, tumor markers, surgery, and pathology reports.Nine girls with MAS were identified. Average age at initial presentation was 3.2 +/- 2.1 years (range, 0.6-7 years). All patients presented with sudden onset of vaginal bleeding. Eight (88%) also had breast development and 2 (22%) had associated pubic hair. Four (44%) girls underwent salpingo-oophorectomy before the diagnosis of MAS was made. Of these, 3 had café au lait macules on initial presentation, and 3 were later diagnosed

2007 Journal of Pediatric Surgery

207. Study of Plexiform Neurofibromas in Neurofibromatosis Type 1

for Study: All Accepts Healthy Volunteers: No Criteria INCLUSION Diagnosis of Neurofibromatosis: All study subjects will fulfill two or more of the diagnostic criteria listed below for NF1. Six or more caf(SqrRoot)(Copyright)-au-lait macules 1.5cm or larger in postpubertal individuals 0.5 cm or larger in prepubertal individuals Two or more neurofibromas of any type or 1 or more plexiform neurofibroma Freckling in the axilla or groin Optic glioma (tumor of the optic pathway) Two or more Lisch nodules

2000 Clinical Trials

208. Treatment of epidermal pigmented lesions with the frequency-doubled Q-switched Nd:YAG laser. A controlled, single-impact, dose-response, multicenter trial. (PubMed)

nanoseconds) in removing benign epidermal pigmented lesions with a single treatment. Forty-nine patients were treated for multiple lentigines (n = 37), for cafe au lait macules (n = 7), and for miscellaneous lesions (n = 5). Treatment areas were divided into four quadrants, irradiated with fluences of 2, 3, 4, or 5 J/cm2 and evaluated at 1- and 3-month intervals following treatment.For lentigines, response was related to dose with a greater than 75% pigment removal achieved in 60% of those lesions treated

1994 Archives of Dermatology

209. Hereditary spinal neurofibromatosis: a rare form of NF1? (PubMed)

of neurofibromatosis with extensive spinal neurofibromas and café au lait macules, which may be allelic to the NF1 gene. (...) Hereditary spinal neurofibromatosis: a rare form of NF1? We describe a family in which seven members in three generations were affected with a rare spinal neurofibromatosis. The affected adults showed, at the ages of 32, 37, 38, and 61, respectively, multiple spinal neurofibromas symmetrically affecting all spinal roots. Two patients were operated on for histopathologically proven cervical spinal neurofibromas. All patients had café au lait spots, one had several freckles in the axillary area

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1997 Journal of Medical Genetics

210. A case of agminated lentiginosis with multiple café-au-lait macules. (PubMed)

A case of agminated lentiginosis with multiple café-au-lait macules. Agminated lentiginosis is an unusual pigmentary disorder, characterized by numerous lentigines grouped within an area of normal skin. The pigmented macules are often in a segmental distribution within a sharp demarcation at the midline. We encountered a 28-year-old woman with an unusual combination of multiple café-au-lait macules and diffuse numerous lentigines involving the right cheek and ipsilateral upper thorax with sharp (...) demarcation at the midline. The multiple lentigines extended bilaterally over the back in a peppered distribution. There were 21 café-au-lait macules on both arms, and the trunk and buttocks; however, there were no Lisch nodules, neurofibromas, or any other clinical manifestations for neurofibromatosis. Histopathology of a macule revealed the features of lentigo.

2007 Clinical & Experimental Dermatology

211. Divided café-au-lait macule of the mouth. (PubMed)

Divided café-au-lait macule of the mouth. We describe a 4-year-old, otherwise healthy boy with a congenital history of a perioral and labial segmental café-au-lait macule, who was noted to have unilateral localized gingival hyperpigmentation that aligned with the café-au-lait macule. This case is highly illustrative of the embryologic timing of the genetic event locally, which leads to café-au-lait type hyperpigmentation. Because the facial features and the ectoderm overlying the facial muscles (...) develop around the third to fourth week of gestation, the distribution of this café-au-lait macule suggests development at the same time.

2007 Journal of American Academy of Dermatology

212. The mechanism of epidermal hyperpigmentation in café-au-lait macules of neurofibromatosis type 1 (von Recklinghausen's disease) may be associated with dermal fibroblast-derived stem cell factor and hepatocyte growth factor. (PubMed)

The mechanism of epidermal hyperpigmentation in café-au-lait macules of neurofibromatosis type 1 (von Recklinghausen's disease) may be associated with dermal fibroblast-derived stem cell factor and hepatocyte growth factor. The mechanism of the accentuated melanization in café-au-lait macules (CALMs) in patients with neurofibromatosis type 1 (NF1; von Recklinghausen's disease) has not been elucidated.To clarify the mechanism involved in the hyperpigmentation of CALMs in NF1.Using enzyme-linked

2003 British Journal of Dermatology

213. Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 Gene (PubMed)

Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 Gene Spinal neurofibromatosis (SNF) is considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors and café-au-lait macules. Involvement of the neurofibromatosis type 1 (NF1) locus has been demonstrated, by linkage analysis, for three families with SNF. In one of them, a cosegregating frameshift mutation in exon 46 of the NF1 gene was identified. In the present (...) study, we report four individuals from two families who carry NF1 null mutations that would be expected to cause NF1. Three patients have multiple spinal tumors and no café-au-lait macules, and the fourth has no clinical signs of NF1. In the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was found, and, in the second, a splice-site mutation (IVS31-5A-->G) enlarging exon 32 by 4 bp at the 5' end was found. The latter mutation has also been observed in an unrelated patient

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2001 American Journal of Human Genetics

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