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Cafe-Au-Lait Macule

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21. Guidelines for the Management of Genital Herpes in New Zealand

. The area may be oedematous and can be extremely tender. Pain on urination is typical, particularly in women and spontaneous urination may be impossible. The ulcers dry to form crusts and later heal, leaving a transient red macule with minimal scarring (if any). Less commonly, lesions can pass through the blister phase quickly and blisters may not be noticed. Involvement of the cervix occurs but speculum examination may not be possible. Lesions may also appear extra-genitally, commonly on thighs (...) often caused by infections and sometimes drugs. Many cases have no obvious precipitating cause. It develops 3–14 days following HSV infection. Mild forms of this condition are common and start and present as macules, papules and urticarial lesions which reach up to 3cm on extremities. They especially affect the hands and feet, dorsum of elbows and knees, and less often the trunk. Some lesions develop into the classical “target” lesion with three colour zones: central dusky erythema, surrounded

2017 New Zealand Sexual Health Society

22. Care of Adults with Neurofibromatosis Type 1

evaluation because of clinical signs (e.g., café- au-lait macules); 5) diagnostic evaluation after detection of an NF1 variant of uncertain significance from ahereditary cancer predisposition gene panel. METHODS At the request of the American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines (PP&G) committee, a work group of experts was convened in July 2015 to develop a Clinical Practice Resource for the clinical care of adults with NF1. Work-group members were

2018 American College of Medical Genetics and Genomics

24. Lymphangioleiomyomatosis Diagnosis and Management Part II: An Official ATS/JRS Clinical Practice Guideline

the diagnosis of TSC. Features suggestive of TSC include the presence of any of the following: subungual ?bromas, facial angio?bromas, hypomelanotic macules, confetti lesions, Shagreen patches, positive family history of TSC, history of seizures or cognitive impairment, or presence of cortical dysplasias, subependymal nodules, and/or subependymal giant cell astrocytomas on brain imaging. Routine brain imaging is not indicated if clinical suspicion for TSC is low. Detailed diagnostic criteria for TSC

2017 American Thoracic Society

25. The UK guidelines for management and surveillance of Tuberous Sclerosis Complex Full Text available with Trip Pro

is available should be considered for treatment with an mTOR inhibitor. Those likely to benefit from an mTOR inhibitor according to current evidence are those with progressive deterioration in lung function and those with chylous complications. Skin Skin involvement is common in TSC. Lesions such as facial angiofibromatosis, hypomelanotic macules, shagreen patches, forehead fibrous plaques, skin tags and periungual fibromas are observed in individuals with TSC. Facial angiofibromas can affect approximately

2018 Tuberous Sclerosis Association

26. Public health guidance on varicella vaccination in the European Union

adulthood. Infection from primary varicella usually confers lifetime immunity. The life-time risk of developing HZ was calculated to be 28% for England and Wales [30]. It is more usual in immunocompromised patients and patients over 50 years, and is unusual in children [31]. Varicella is characterised by fever and a generalised, pruritic, vesicular rash, typically consisting of 200 to 500 lesions in varying stages of development and resolution. The rash progresses rapidly from macules to papules

2015 European Centre for Disease Prevention and Control - Public Health Guidance

28. Urticaria

, such as milk, eggs, peanuts, tree nuts, and shellfish. Insect bites and stings. Contact allergens, such as latex. Certain drugs, such as penicillins, aspirin, nonsteroidal anti-inflammatory drugs (NSAIDs), and vaccinations. Chronic urticaria (urticaria that lasts for 6 weeks or longer, typically on most days of the week) can be spontaneous (chronic spontaneous urticaria [CSU]), autoimmune (autoimmune urticaria [AU]), or inducible (chronic inducible urticaria [CINDU]) [ ]. CSU occurs with no known (...) identifiable external cause. However, symptoms may be aggravated by heat, stress, certain drugs (for example NSAIDs), and infections (for example viral infection and Helicobacter pylori infection [ ; ]. AU is characterized by the presence of immunoglobulin G (IgG) autoantibodies to the high-affinity receptor for IgE (Fc epsilon R1). It accounts for about 30–50% of chronic urticaria cases [ ; ; ; ; ] and may be associated with other autoimmune conditions (such as thyroiditis). In European guidelines AU

2018 NICE Clinical Knowledge Summaries

29. Febrile seizure

sclerosis may be suggested by facial angiofibromas, shagreen or leather patches, periungual fibromas, and hypopigmented macules ('ash-leaf spots'). Neurofibromatosis may be suggested by cafe au lait spots, intertriginous freckling, iris hamartomas, and subcutaneous nodules. Basis for recommendation Basis for recommendation The information on the differential diagnosis of febrile seizure is based on the American Academy of Pediatrics (AAP) clinical practice guideline Febrile seizures: guideline

2018 NICE Clinical Knowledge Summaries

31. Hepatic Lesions Associated with McCune Albright Syndrome. (Abstract)

Hepatic Lesions Associated with McCune Albright Syndrome. McCune Albright Syndrome (MAS) results from a GNAS gene mutation. It is associated with café-au-lait macules, fibrous dysplasia, and several endocrinopathies to include gonadotropin-independent precocious puberty, growth hormone excess, Cushing syndrome, thyroid disease, and renal phosphate wasting. It is recognised to be a rare cause of neonatal cholestasis.We describe the hepatic outcome of three children with MAS referred to a single

2019 Journal of Pediatric Gastroenterology and Nutrition

32. Café noir spots: A Feature of Familial Progressive Hyper- and Hypopigmentation. (Abstract)

Café noir spots: A Feature of Familial Progressive Hyper- and Hypopigmentation. Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis characterized by multiple café au lait spots and hypopigmented ash-leaf macules intermingled with blotchy hyperpigmentation (1,2). Herein, we describe a Turkish FPHH patient with café-noir spots. A 16-year-old male presented to our Pediatric Dermatology Clinic, with extensive hyperpigmentation, irregular brown patches, and hypopigmented

2019 Journal of the European Academy of Dermatology and Venereology

33. Laser treatment of hyperpigmented lesions: position statement of the European Society of Laser in Dermatology. (Abstract)

effective for treating many hyperpigmented lesions such as lentigos, dermal hypermelanocytosis or heavy metal depositions. In the other hand, they have to be considered with great caution for other disorders, such as café au lait macules, melasma or postinflammatory hyperpigmentation. After making the correct diagnosis, if lasers or IPLS are indicated, the optimal wavelengths and parameters will be chosen taking into account the skin phototype, origin and depth of the target pigments.Although

2019 Journal of the European Academy of Dermatology and Venereology

34. Dermoscopy in Diagnosis of Pigmentary Skin Lesions

, psoriasis, atopic and contact dermatitis, lichen planus, trauma, drugs, and fixed-drug eruptions) Melasma Solar lentigines Ephelides (freckles) Café-au-lait macules Nevi Melanoma and precursors Acquired (common) Vitiligo Pityriasis alba Tinea versicolor Postinflammatory hypopigmentation Congenital (uncommon) Albinism Piebaldism Tuberous sclerosis Hypomelanosis of Ito Several studies have shown that dermoscopy may come in very handy for assisting the noninvasive diagnosis of various general

2018 Clinical Trials

35. Gigantism in a McCune-Albright’s syndrome with calcified GH-releasing pituitary adenoma: Case report and literature review Full Text available with Trip Pro

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

2018 International journal of surgery case reports

36. The endovascular management of neurofibromatosis-associated aneurysms: A systematic review. (Abstract)

The endovascular management of neurofibromatosis-associated aneurysms: A systematic review. Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple café-au-lait macules, benign neurofibromas, and iris hamartomas. Albeit less common, vascular lesions of medium and large-sized arteries and veins are a well-recognized complication, which can lead to fatal consequences such as rupture.A

2018 European journal of radiology

37. Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. Full Text available with Trip Pro

macules and other pigmentation alterations. We report on a 13-month-old girl suspected of having CMMRD due to a desmoplastic medulloblastoma and a striking skin pigmentation that included multiple café-au-lait macules, hypopigmented areas and Mongolian spots. Whole-exome sequencing revealed homozygosity for MSH2 variant p.(Leu92Val) and MSH6 variant p.(Val809del), both variants of uncertain significance (VUS). Immunohistochemical analysis of the tumour tissue showed expression of all four MMR proteins (...) Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessively inherited childhood cancer susceptibility syndrome caused by biallelic germline mutations in one of the mismatch repair (MMR) genes. The spectrum of CMMRD-associated tumours is very broad and many CMMRD patients additionally display signposting non-neoplastic features, most frequently café-au-lait

2018 European Journal of Human Genetics

38. Corkscrew retinal vessels and retinal arterial macroaneurysm in a patient with neurofibromatosis type 1: A case report. Full Text available with Trip Pro

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

2018 Medicine

39. Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome. Full Text available with Trip Pro

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

40. Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1 Full Text available with Trip Pro

that exhibits clinical hallmarks of NF1, including café au lait macules, neurofibromas, and optic pathway glioma. Spontaneous loss of heterozygosity is observed in this model, a phenomenon also described in NF1 patients. Oral administration of a mitogen-activated protein kinase/extracellular signal-regulated kinase inhibitor suppresses Ras signaling. To our knowledge, this model provides an unprecedented opportunity to study the complex biology and natural history of NF1 and could prove indispensable

2018 Communications Biology

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