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218 results for

Cafe-Au-Lait Macule

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201. Oophorectomy in McCune-Albright syndrome: a case of mistaken identity. (Abstract)

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

202. Poliosis circumscripta associated with neurofibromatosis 1. (Abstract)

Poliosis circumscripta associated with neurofibromatosis 1. A 38-year-old man presented with axillary freckling, multiple café au lait macules and neurofibromas on the scalp, trunk and extremities. In addition, he had a patch of white hair on the right parieto-occipital area overlying a scalp neurofibroma. He was diagnosed with poliosis circumscripta associated with neurofibromatosis 1.

2008 Australasian Journal of Dermatology

203. Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. Full Text available with Trip Pro

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

2007 European Journal of Human Genetics

204. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Full Text available with Trip Pro

-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

2007 American Journal of Human Genetics

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

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. Junctional Naevus

the level of the skin, to confirm as a junctional naevus. Distinguish from other similar pigmented macules that affect the skin: Freckles (ephelides) are usually multiple, small and darken after sunlight exposure. Café-au-lait spots are usually larger, lighter in pigmentation and have very distinct borders. Lentigines are small, sharply circumscribed and pigmented, surrounded by normal-appearing skin and tend to be multiple, lighter brown and more irregular in shape. Melanoma tends to be darker, have

2008 Mentor

207. Tuberous Sclerosis

tags can occur in the axillae, groins, and around the head and neck. Confetti lesions are a cluster of hypomelanotic lesions that have a reticulated appearance. They can develop anywhere on the skin. NB : café-au-lait spots are not a diagnostic sign. Renal involvement Renal angiomyolipoma may be multiple. They are benign hamartomas of the kidney. Usually, they are asymptomatic in childhood. In adults, they can rupture leading to intraperitoneal or intrarenal/ureteric haemorrhage. This can present (...) and do not cause hydrocephalus. Skin and teeth involvement Most patients have skin changes. Pictures of the lesions are available in 'Further reading & references', below. All patients should undergo a detailed skin and teeth examamination at time of diagnosis to evaluate for facial angiofibromas, fibrous cephalic plaques, hypomelanotic macules or confetti lesions, ungual fibromas, shagreen patch, defects in tooth enamel, and intraoral fibroma. A skin survey should be performed annually, with focus

2008 Mentor

208. Neurofibromatosis

. The schwannomatosis phenotype is limited to multiple schwannomas, and usually presents with pain. Diagnostic criteria for NF1 There are diagnostic criteria for NF1 that require at least two of seven criteria. Some of these do not appear until later childhood or adolescence, and so confirmation of the diagnosis may be delayed and children should be followed up. At least six café-au-lait spots or hyperpigmented macules. They must be at least 5 mm wide in children younger than 10 years and 15 mm in adults. Axillary (...) have mosaic NF1 or NF2. Axillary or inguinal freckles are rare at birth but appear throughout childhood and adolescence. Café-au-lait patches and skin-fold freckling do not usually cause complications; however, some patients are distressed by the appearance of this pigmentation and may be helped by skin camouflage advice. There is no evidence to support the routine use of laser treatment for café-au-lait patches. Hypopigmented macules may co-exist with café-au-lait spots in NF1 and are found

2008 Mentor

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

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

210. 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

211. Hereditary spinal neurofibromatosis: a rare form of NF1? Full Text available with Trip Pro

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

1997 Journal of Medical Genetics

212. cafe au lait spots

cafe au lait spots cafe au lait spots - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search cafe au lait spots Cafe au lait spots are brown cutaneous macules which may be present at birth and, if numerous, are strongly suggestive of the diagnosis of neurofibromatosis or Albright's syndrome. The incidence of single lesions is high and of no significance - a patient is allowed up to four patches of less than 0.5cm diameter

2010 GP Notebook

213. A case of agminated lentiginosis with multiple café-au-lait macules. (Abstract)

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

214. Ipsilateral café-au-lait macules, deafness, and pituitary microadenoma in a 35-year-old woman. (Abstract)

Ipsilateral café-au-lait macules, deafness, and pituitary microadenoma in a 35-year-old woman. The association between ipsilateral café-au-lait macules, deafness, and pituitary adenoma has not been described previously.A 35-year-old woman affected since birth with two café-au-lait macules, one measuring 15 x 20 cm, with an irregular shape, covering almost all of the left buttock, and the other measuring 6 x 13 cm on the front side of the left thigh, is described. For as long as the patient can

2008 International Journal of Dermatology

215. Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1? (Abstract)

Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1? Type 2 segmental manifestation of autosomal dominant dermatoses refers to pronounced segmental lesions superimposed on the ordinary nonsegmental phenotype, indicating loss of heterozygosity occurring at an early stage of embryogenesis. We describe a 20-year-old Taiwanese woman with typical lesions of neurofibromatosis type 1 (NF1) in the form of characteristic café-au-lait spots (...) , neurofibromas, axillary freckling and Lisch nodules. In addition, a giant garment-like or "bathing-trunk" café-au-lait macule involved the lower half of the trunk, the buttocks, and parts of the thighs, being superimposed on the ordinary smaller spots of NF1. This large café-au-lait macule may be best explained as an example of type 2 segmental NF1. A novel mutation (3009delG) in exon 23 was also identified in this patient, which has not yet been described in sporadic and familial NF1.

2008 Journal of American Academy of Dermatology

216. Divided café-au-lait macule of the mouth. (Abstract)

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

217. Spinal Neurofibromatosis without Café-au-Lait Macules in Two Families with Null Mutations of the NF1 Gene Full Text available with Trip Pro

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

2001 American Journal of Human Genetics

218. 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. (Abstract)

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

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