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Hyperpigmentation

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2721. Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. Full Text available with Trip Pro

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. A special subphenotype of the fragile X syndrome is reported which is characterised by extreme obesity with a full, round face, small, broad hands/feet, and regional skin hyperpigmentation. It resembles the Prader-Willi syndrome (PWS) and might therefore be named 'Prader-Willi-like'. Unlike the PWS, these PW-like fragile X patients lack the neonatal hypotonia with feeding problems during infancy followed

1993 Journal of Medical Genetics

2722. Three patients with ring (X) chromosomes and a severe phenotype. Full Text available with Trip Pro

also had streaky hyperpigmentation of the skin in a pattern suggesting dermal mosaicism. It has been hypothesised that the severe phenotype might be the result of the small r(X) chromosome remaining active. However, there is little critical evidence to support this suggestion, while there is considerable evidence against it, including (1) a similar phenotype in 45,X/46,X,r(Y) patients, (2) the late replication of some of the small r(X) chromosomes associated with this phenotype, and (3

1993 Journal of Medical Genetics

2723. Oculodermatological findings in workers with occupational exposure to polychlorinated biphenyls (PCBs). Full Text available with Trip Pro

Oculodermatological findings in workers with occupational exposure to polychlorinated biphenyls (PCBs). Oculodermatological findings, such as hypersecretion of the Meibomian glands, swelling of the upper eyelids and hyperpigmentation of the conjunctivae are considered typical of "PCB poisoning." They were common clinical manifestations of yusho and yu-cheng, two epidemics in Japan and Taiwan caused by the ingestion of rice cooking oil contaminated with polychlorinated biphenyls (PCBs

1985 British Journal of Industrial Medicine

2724. Myopathy in Addison's disease. Full Text available with Trip Pro

Myopathy in Addison's disease. Since the first description of primary adrenocortical insufficiency by Thomas Addison in 1855 several large series of patients with Addison's disease have been published. The common signs and symptoms include: weakness, hyperpigmentation, weight loss, gastrointestinal complaints, and hypotension. It is rare for patients with Addison's disease to present with musculoskeletal symptoms including flexion contractures, hyperkalaemic neuromyopathy, Guillain-Barré

1987 Annals of the Rheumatic Diseases

2725. Birdshot chorioretinopathy: clinical characteristics and evolution. Full Text available with Trip Pro

Birdshot chorioretinopathy: clinical characteristics and evolution. During the period 1980-6 102 patients from 14 European eye clinics were diagnosed as having birdshot chorioretinopathy (BSCR). All were Caucasian, and the series consisted of 47 men and 55 women, with a mean age of 52.5 years. The major findings in this rare disorder concern the ocular fundus. Most marked are the patterned distribution of depigmented spots without hyperpigmentation, radiation from the optic disc in association

1988 The British journal of ophthalmology

2726. Canine Sertoli Cell Tumor: A Medical Records Search and Literature Review Full Text available with Trip Pro

and hyperpigmentation, bone marrow suppression, gynecomastia, and behavioral changes. The association of Sertoli cell tumor with cryptorchidism was obvious in these records, as ten of the dogs had one or both testicles undescended. Histopathological features of the tumors were variable and had no consistent correlation with metastatic potential. Some interesting comparisons can be made regarding these tumors in other domestic animals and in man.

1987 The Canadian Veterinary Journal

2727. Spectrum of anomalies in Fanconi anaemia. Full Text available with Trip Pro

Spectrum of anomalies in Fanconi anaemia. The frequency of various anomalies was compared in probands with Fanconi anaemia and their affected sibs. As probands are usually ascertained because of a 'characteristic' array of physical anomalies, the frequencies of these specific anomalies may be overestimated in probands, whereas their affected sibs may provide a more accurate estimate. The frequencies of growth retardation, skin hyperpigmentation, radial ray deformities, radial ray reduction

1982 Journal of Medical Genetics

2728. Bilateral ocular melanocytosis with malignant melanoma of the choroid. Full Text available with Trip Pro

Bilateral ocular melanocytosis with malignant melanoma of the choroid. A woman with bilateral ocular melanocytosis developed a malignant melanoma of the choroid in one eye. The ocular melanotic hyperpigmentation, present since childhood, clinically involved the conjunctiva and episcleral and uveal tract of both eyes. To our knowledge this is only the second reported case of a uveal malignant melanoma in a patient with bilateral ocular melanocytosis. There is evidence that patients with ocular

1981 The British journal of ophthalmology

2729. The Patterson syndrome, leprechaunism, and pseudoleprechaunism. Full Text available with Trip Pro

The Patterson syndrome, leprechaunism, and pseudoleprechaunism. A bizarre syndrome has hitherto masqueraded as leprechaunism, and although it is a quite different disorder it has been used as the prototype of leprechaunism in some birth defects atlases. It is proposed that this condition is designated the Patterson syndrome and details of a second case are reported. The features of this connective tissue and neuroendocrine disorder include bronzed hyperpigmentation, cutis laxa of the hands

1981 Journal of Medical Genetics

2730. Porphyria cutanea tarda and haemochromatosis: a family study. Full Text available with Trip Pro

Porphyria cutanea tarda and haemochromatosis: a family study. A female patient aged 73 presented with a history of general malaise and hyperpigmentation. Iron studies in the patient and immediate family members indicated that the proband was homozygous for haemochromatosis, but subsequent investigations revealed that porphyria cutanea tarda was responsible for her signs and symptoms. Venesection of four units of blood brought her symptoms under control. The interplay between porphyria cutanea

1990 Gut

2731. Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. Full Text available with Trip Pro

Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12. Two brothers in a Chinese family with selective malabsorption of vitamin B12 associated with proteinuria (Imerslund-Grasbeck syndrome) presented with widespread mottled skin pigmentation, termed poikiloderma. In contrast to anaemia, this pigmentary disturbance remained unresponsive to vitamin B12 replacement. This is different from the reported hyperpigmentation sometimes seen in vitamin B12

1994 Journal of Clinical Pathology

2732. "Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting? Full Text available with Trip Pro

"Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting? An uncommon coexistence of circumscribed hyperpigmentation and hypopigmentation, in close proximity to each other, is described in a 17 years old patient with various other cogenital defects, such as dysmorphic facial appearance, severe kyphoscoliosis, delayed motor development, epileptic seizures, and mental retardation. We suggest

1997 Journal of Medical Genetics

2733. Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. Full Text available with Trip Pro

of 46,XX subjects affected with lipoid CAH who manifested spontaneous puberty. Phenotypic female infants with 46,XX karyotypes were diagnosed with lipoid CAH as newborns based on a clinical history of failure to thrive, hyperpigmentation, hyponatremia, hyperkalemia, and low basal values of serum cortisol and urinary 17-hydroxycorticosteroid and 17-ketosteroid. These patients responded to treatment with glucocorticoid and 9alpha-fludrocortisone. Spontaneous thelarche occurred in association

1997 Journal of Clinical Investigation

2734. Phytophotodermatitis associated with parsnip picking. Full Text available with Trip Pro

Phytophotodermatitis associated with parsnip picking. Phytophotodermatitis to certain plant groups is a well recognised entity. The combination of sunlight exposure and contact with plants of the umbelliferae family leads to the development of painful, erythematous, and bullous lesions and later to cutaneous hyperpigmentation. Agricultural workers and many clinicians often fail to make this link when patients present with these lesions. An incident involving 11 patients is presented to high

1999 Journal of accident & emergency medicine

2735. Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q Full Text available with Trip Pro

Skin pigmentary anomalies and mosaicism for an acentric marker chromosome originating from 3q We report on a 22 year old man with hyperpigmentation distributed along the lines of Blaschko in whom cytogenetic analysis showed mosaicism for an unusual supernumerary marker chromosome. The patient was of normal intelligence and was not dysmorphic. The marker was present in 30% of his lymphocytes and in 6% of his skin fibroblasts from a dark area, while fibroblasts from a light area showed a normal

1999 Journal of Medical Genetics

2736. Bilateral involvement by age related maculopathy lesions in a population Full Text available with Trip Pro

, hyperpigmentation, and hypopigmentation).Among 230 gradable cases of AMD or early ARM, 183 (80%) were bilateral. For AMD, 39/69 cases (57%) were bilateral, while for early ARM, 123/161 cases (77%) had signs in both eyes. Of the individual lesions, reticular drusen (91%) and indistinct soft drusen (79%) were most frequently present in both eyes. Geographic atrophy was bilateral in 56%, neovascular AMD in 40%, and distinct soft drusen in 47%, while hyperpigmentation was bilateral in 38% and hypopigmentation

1998 The British journal of ophthalmology

2737. Prevalence of age related maculopathy in a representative Japanese population: the Hisayama study Full Text available with Trip Pro

frequency in men and women, was 9.6%. The frequency of drusen increased with age (p <0.01). Hyperpigmentation and/or hypopigmentation of the retina was present in 3.2%, geographic atrophy in 0.2%, and neovascular age related macular degeneration in 0.67%. The frequency of neovascular age related macular degeneration was significantly higher in the men (1.2% v. 0.34%, p <0.01).Early and late stage ARM is less common among Japanese people than among white people in Western countries, while late stage ARM

2001 The British journal of ophthalmology

2738. Waardenburg syndrome type 2 in a Turkish family: implications for the importance of the pattern of fundus pigmentation Full Text available with Trip Pro

, Preschool Eye Color Fundus Oculi Hearing Loss, Sensorineural genetics Humans Hyperpigmentation genetics Hypopigmentation genetics Male Mutation Pedigree Waardenburg Syndrome classification genetics 2001 11 13 10 0 2002 1 5 10 1 2001 11 13 10 0 ppublish 11702731 PMC1723753

2001 The British journal of ophthalmology

2739. Passive permeability and outward active transport of fluorescein across the blood-retinal barrier in early ARM Full Text available with Trip Pro

Passive permeability and outward active transport of fluorescein across the blood-retinal barrier in early ARM To study the passive and active transport of fluorescein across the blood-retina barrier in early age related maculopathy (ARM) (soft drusen > 63 microm, hyperpigmentation and/or hypopigmentation in patients above 50 years of age).15 patients and 10 healthy subjects were included. Morphological changes were graded from 30 degrees fundus photographs using a simplified version

2001 The British journal of ophthalmology

2740. Short wavelength automated perimetry in age related maculopathy Full Text available with Trip Pro

without, whereas there were no differences in visual acuity (log MAR). Sensitivity was also reduced in those eyes with fellow eyes having a sight threatening complication of age related macular degeneration (AMD). Eyes with focal hyperpigmentation compared with those without had no loss of sensitivity, but did have a significant decrease in the central part of the field compared with the more eccentric.SWS sensitivity loss is associated with common risk factors for progression to AMD. Short wavelength

2001 The British journal of ophthalmology

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