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218 results for

Cafe-Au-Lait Macule

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181. The Gastrointestinal Phenotype of Germline Biallelic Mismatch Repair Gene Mutations. (Abstract)

(range: 5-28). More than one-third of patients had multiple colorectal adenomas (>10 polyps). Six individuals with biallelic MMR gene mutations have been reported with small bowel adenocarcinoma (mean age 20 years (range: 11-41)). Café-au-lait (CAL) macules were reported in 72% and, based on mutation analysis, consanguinity was suspected in 52% of kindred. Of the 29 kindred, 19 (66%) had PMS2 mutations, 6 (21%) had MSH6 mutations, 3 (10%) had MLH1 mutations, and 1 (3%) had MSH2 mutation.Biallelic MMR

2010 American Journal of Gastroenterology

182. Dermatological Manifestations of Inherited Cancer Syndromes in Children. (Abstract)

Dermatological Manifestations of Inherited Cancer Syndromes in Children. Various cutaneous signs presenting in childhood, for example café-au-lait macules, may have systemic cancer associations. Indeed, this may be the first manifestation of the underlying cancer predisposition. The syndromes covered in this review fall into four main categories: (i) DNA damage processing defects including Fanconi anaemia, ataxia telangiectasia, Bloom syndrome, Rothmund-Thomson syndrome, constitutional mismatch

2010 British Journal of Dermatology

183. Dermatologic Findings in 61 Mutation-Positive Individuals with Cardio-facio-cutaneous Syndrome. Full Text available with Trip Pro

haemangiomas occurred at a greater frequency, 26% (16/61), as compared with the general population.CFC syndrome has a complex dermatological phenotype with many cutaneous features, some of which allow it to be differentiated from the other Ras/MAPK pathway syndromes. Multiple café-au-lait macules and papillomas were not identified in this CFC cohort, helping to distinguish CFC from other RASopathies such as neurofibromatosis type 1 and Costello syndrome.© 2011 The Authors. BJD © 2011 British Association

2010 British Journal of Dermatology

184. Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. Full Text available with Trip Pro

Predictive value of café au lait macules at initial consultation in the diagnosis of neurofibromatosis type 1. To evaluate the predictive utility of the number and morphologic appearance of isolated café au lait macules (CALMs) in establishing the diagnosis of neurofibromatosis type 1 (NF1) in a cohort of children referred to an NF1 subspecialty clinic.Retrospective study of patients seen between the years 2004 and 2007.Tertiary care neurofibromatosis referral clinic at St Louis Children's

2009 Archives of Dermatology

185. Melanoma arising in segmental nevus spilus: Detection by sequential digital dermatoscopy. (Abstract)

Melanoma arising in segmental nevus spilus: Detection by sequential digital dermatoscopy. Nevus spilus (NS) defines a café-au-lait macule with superimposed maculopapular speckles. Although the café-au-lait macule often presents at birth, the darker pigmented speckles increase in number and size during a period of several years. The need for close follow-up of patients with NS is underlined by reports of several cases of cutaneous melanoma developing within such lesions.We followed up 4 adult

2009 Journal of American Academy of Dermatology

186. Phenotypic and Genotypic Analyses of Genetic Skin Disease through the Online Mendelian Inheritance in Man (OMIM) Database. Full Text available with Trip Pro

-encoding genes. The most common elemental skin features included [corrected] hair/nail phenotypes, while [corrected] the most common systemic features included those associated with developmental, musculoskeletal, and neurological systems. As a proof of principle, we focused on a single skin feature- café-au-lait macules-and partitioned the disease space into hierarchical groupings on the basis of this finding. Finally, functional analyses among GSD loci were mapped back to skin features, providing

2009 Journal of Investigative Dermatology

187. Pathogenesis of vestibular schwannoma in ring chromosome 22. Full Text available with Trip Pro

Pathogenesis of vestibular schwannoma in ring chromosome 22. Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. The pathogenesis of these tumours is not always clear yet.We report on a female patient with a ring chromosome 22 presenting with severe mental retardation, autistic behaviour, café-au-lait macules and facial dysmorphism

2009 BMC Medical Genetics

188. Natural History Study of Patients With Neurofibromatosis Type I

evaluations or MRI scans requested for research purposes, or other studies which might negatively impact on the pregnancy. ELIGIBILITY CRITERIA PATIENT FOR OPTIONAL TUMOR / TISSUE BIOPSY FOR RESEARCH INCLUSION CRITERIA: Age greater than 12 years, and neurofibroma, cafe-au-lait macule, xanthogranuloma, or other skin area, which is easily accessible, and sufficiently distant from vital structures to allow for biopsy. Platelet count has to be greater than or equal to 100,000/microL, and PT and PTT have (...) exams, MRI scans and PET scans to evaluate optic pathway gliomas (tumors arising from the vision nerves or the brain areas for vision) and the chemicals within the tumor and brain. Eye exams and photographs to evaluate the development of Lisch nodules (non-cancerous tumors on the eye). Photographs of dermal neurofibromas (tumors of the skin), cafe-au-lait spots (dark or pigmented areas on the skin that are often the first signs of NF1) and other skin problems. Pain evaluations to monitor

2009 Clinical Trials

189. Topical Imiquimod 5% Cream for Treatment of Cutaneous Neurofibromas in Adults With Neurofibromatosis 1

or more of the following characteristics: six or more cafe-au-lait macules (1.5cm or greater in size) skin fold freckling in the axilla or groin optic pathway glioma two or more Lisch nodules of the iris distinctive bony lesions such as dysplasia of the sphenoid wing or of a long bone such as the tibia two or more neurofibromas of any type of 1 or more plexiform neurofibroma first degree relative with NF1 Participants must have at least four cutaneous neurofibromas on skin exam with the following

2009 Clinical Trials

190. coast of Maine spots

coast of Maine spots coast of Maine spots - General Practice Notebook This site is intended for healthcare professionals General Practice Notebook | Medical search coast of Maine 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

191. European Dermatology Guideline for the photodermatoses - Genomic Instability diseases (DNA repair deficient diseases, Helicase deficient diseases)

. The patients show photosensitivity with erythema spreading with sun-exposure on nose, eyelids, forehead and, later, the extensor surfaces of the arms. The combination of the essential telangiectasia and photosensitivity leads to a poikilodermatous picture. Upon sun-exposure the patients can blister, especially on their lips. Disseminated café au lait macules can exist. Despite the photosensitivity, cutaneous malignancies are rare. Scabies has been described. Early in life, reduced immunoglobulin levels

2005 European Dermatology Forum

192. Neurofibromatosis type 1

the same family. Multiple caf�-au-lait macules are found in almost all patients (some at birth and most before the first year). Intertriginous freckling develops starting at 5 years of age. Multiple cutaneous and subcutaneous neurofibromas develop in adults. In older patients, they continue to increase in number and size. Cutaneous neurofibromas do not become malignant. Plexiform neurofibromas (growing along the nerve and its branches) may cause disfigurement, pain, and functional problems (...) . Neurofibromatosis-Noonan syndrome is a variant of NF1 in 99% of cases (see these terms). Etiology NF1 is caused by mutations in the tumor suppressor neurofibromin 1 NF1 gene (17q11.2) and rarely by 17q11 microdeletion (only 5%). Diagnostic methods Formal diagnostic criteria have been established. 2 or more of the following are diagnostic: more than 5 caf�-au-lait macules, 2 or more neurofibromas or one plexiform neurofibroma, optic glioma, freckling, 2 or more Lisch nodules, specific bone dysplasias, first

2005 Orphanet

193. 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

194. Transsphenoidal surgery in a patient with acromegaly and McCune-Albright syndrome: application of neuronavigation. Full Text available with Trip Pro

Transsphenoidal surgery in a patient with acromegaly and McCune-Albright syndrome: application of neuronavigation. The McCune-Albright syndrome (MAS) is characterized by a clinical triad of polyostotic fibrous dysplasia, café-au-lait hyperpigmented macules, and hypersecretory endocrinopathies. Acromegaly is an uncommon manifestation of the endocrine disturbance associated with MAS, and the role of surgery in managing these cases has been a topic of debate. The authors present the case of a 35 (...) -year-old man with MAS who was also diagnosed with acromegaly, hyperprolactinemia, and pituitary macroadenoma. The patient had an 18-year history of fibrous dysplasia involving the right frontal bone and ribs as well as multiple endocrinopathies, but no cutaneous hyperpigmented macules. An oral glucose tolerance test demonstrated partial suppression of plasma levels of growth hormone (GH). The patient underwent transsphenoidal resection of the pituitary tumor, performed with assistance

2008 Journal of Neurosurgery

195. Health-Related Quality of Life in Patients with Neurofibromatosis Type 1. A Survey of 129 Italian Patients. (Abstract)

Health-Related Quality of Life in Patients with Neurofibromatosis Type 1. A Survey of 129 Italian Patients. Neurofibromatosis type 1 (NF1), a genetic condition most commonly characterized by the presence of dermal neurofibromas and café au lait macules, has a significant impact upon quality of life (QoL). The study aimed to assess the impact of NF1 on QoL.A total of 129 patients with NF1 completed the study questionnaires in an Italian academic dermatological centre and a neurofibromatosis

2008 Dermatology

196. 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

197. Ranibizumab for Neurofibromas Associated With Neurofibromatosis 1

of the following characteristics: a) Six or more cafe-au-lait macules b) Skin fold freckling in the axilla or groin c) Optic pathway glioma d) Two or more Lisch nodules of the iris e) Distinctive bony lesions such as dysplasia of the sphenoid wing or of a long bone such as the tibia f) Two or more neurofibromas of any type or 1 or more plexiform neurofibroma g) First degree relative with NF1 At least four cutaneous neurofibromas on skin exam with the following qualities: a) the lesion must be discrete

2008 Clinical Trials

198. Cutis tricolor parvimaculata: a distinct neurocutaneous syndrome? (Abstract)

Cutis tricolor parvimaculata: a distinct neurocutaneous syndrome? An 11-year-old girl had multiple, disseminated, rather small café-au-lait macules and hypochromic spots involving the neck, the trunk and the legs. In part, the two types of macules showed a spatial proximity, suggesting didymosis (twin spotting). The term cutis tricolor has been proposed to describe congenital paired hyperchromic and hypochromic macules on a background of intermediate skin. Because the spots present in this case (...) . The skin lesions were reminiscent of a disorder described by Westerhof et al. in 1978 under the term 'hereditary congenital hypopigmented and hyperpigmented macules'. So far, however, it is not clear whether cutis tricolor parvimaculata is identical with or different from this disorder.(c) 2005 S. Karger AG, Basel

2005 Dermatology

199. Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany. Full Text available with Trip Pro

hypopigmented areas, occasional café-au-lait spots and, most remarkably, a generalized lentiginosis. Histology revealed different degrees of basal layer hyperpigmentation and pigment incontinence, also in the spots appearing hypopigmented. Ultrastructural analysis showed a normal mode of Caucasian-like melanogenesis with varying content of regular melanosome complexes within the keratinocytes. All families are clustered in a small area around the town of Teublitz in south-east Germany with about 20,000 (...) Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany. Familial progressive hyperpigmentation is rarely described in the literature. We report on five patients from three different families presenting with a peculiar progressive pigmentary disorder. The patients show a progressive diffuse, partly blotchy, hyperpigmentation, intermixed with scattered small hypopigmented macules, a few large

2004 Acta Dermato-Venereologica

200. Congenital atresia of portal vein with portocaval shunt associated with cardiac defects, skeletal deformities, and skin lesions in a boy. (Abstract)

and generally limited to females. We describe a rare case of aberrant portal vein development with congenital portocaval shunt (end-to-side) in a 3.5-year male child associated with cardiac defects (atrial and ventricular septal defects), skeletal deformities (flexion deformity and clinodactyly of digits and toes), and lichen planus with café au lait macules of skin.

2008 Journal of Pediatric Surgery

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