Search results for "PIGMENT"
showing 10 items of 626 documents
Significance of lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells.
1995
Lipopigments with fingerprint profiles in eccrine sweat gland epithelial cells are regular findings in childhood NCL. They have also been described in adult NCL (ANCL) a few times, but not consistently. However, they have been considered nonspecific when not matched by similar abnormal profiles in noneccrine sweat gland epithelial cells. These conflicting reports may pose a diagnostic dilemma as outlined in the following 2 examples. Patient 1 is a 20-year-old man who developed severe tetraparesis and dementia over 2 years. Electroencephalogram was abnormal with epileptiform discharges. The patient died at age 21 years without autopsy ; no other relatives are known to have a similar disease.…
Study of total stimulated saliva flow and hyperpigmentation in the oral mucosa of patients diagnosed with hereditary hemochromatosis. Series of 25 ca…
2010
Objective: To study lesions in the oral cavity of patients with hereditary hemochromatosis and determine their association with iron overload. Study Design: We took a clinical history, examined the pigmentation of the oral mucosa, and measured total stimulated saliva production. We correlated our results with epidemiological, phenotypic, and genotypic findings. Patients with associated diseases or drug therapy causing xerostomia were excluded. Results: We evaluated 25 patients (20 men, mean age 52 years) over a period of 6 months. No patient complained of xerostomia and pigmentation was not detected in the oral mucosa. The total stimulated salivary flow was reduced in 9 patients who had an …
Effects of sex on naevus body distribution and melanoma risk in two melanoma case-control studies at different latitudes
2016
Naevus count is the most predictable phenotypic risk factor for melanoma and is mainly influenced by genetic factors1,2,3. Melanoma disparities according to gender have been reported in many studies in term of body distribution, survival and to a lesser extent incidence1,2. It is well established that women are more likely to get melanoma on the lower limbs, whilst men are more prone to melanoma on the trunk. In this study, we explore the effects of gender on the distribution of naevi on the body in melanoma cases and controls from different latitudes and whether the odds ratios for melanoma associated with naevi at different body sites are affected by gender. Two case control studies are c…
Total body skin examination for skin cancer screening in patients with focused complaints
2012
Background. The value of total body skin examination (TBSE) for skin cancer screening is controversial. Objective: We sought to determine whether TBSE could be helpful in patients with focused skin symptoms who would not otherwise have undergone TBSE. Methods: In a prospective, multicenter, cross-sectional study consecutive adult patients were recruited during a period of 18 months. Physicians first inspected, problem areas and uncovered areas and then performed TBSE. Equivocal lesions detected in both steps were excised or biopsied. Primary outcomes were the absolute and relative risks of missing skin cancer and the number of patients needed to examine to detect melanoma or another maligna…
The Usefulness of Dermoscopy for the Recognition of Malignant Collision Tumors.
2021
<b><i>Background:</i></b> Preoperative diagnosis of malignant collision tumors (MCT) is extremely difficult. The value of dermoscopy to improve the correct detection of these tumors has not been previously studied. This study aims to evaluate the diagnostic accuracy of MCT with and without dermoscopy and to describe the dermoscopic features of a large series of MCT. <b><i>Methods:</i></b> Dermoscopic images of 161 MCT were evaluated. Clinical and dermoscopic images of histopathologically proven MCT intermingled with other tumors were randomly presented to clinicians with different levels of experience, blinded to the diagnosis and objective of…
Lower lip squamous cell carcinoma in patients with photosensitive disorders : analysis of cases treated at the Brazilian National Cancer Institute (I…
2017
Background Lower lip squamous cell carcinoma (LLSCC) is a common malignancy of the head and neck, being mainly a consequence of a chronic exposure to ultraviolet (UV) light solar radiation. Here, we evaluated the clinicopathological profile of patients with photosensitive disorders (xeroderma pigmentosum, lupus erythematosus and albinism) that developed LLSCC. Material and Methods Data from patients who had a diagnosed LLSCC with a prior xeroderma pigmentosum, lupus erythematosus or albinism diagnosis that were treated at INCA from 1999 to 2012 were collected from patients’ medical records (n=16). The control group was composed of 68 patients with LLSCC without a medical history of photosen…
Bilateral maculopathy after exposure to a laser pointer: Optical coherence tomography angiography findings.
2018
Abstract Case report A 36-year-old man went to the emergency department the day after exposure to a laser pointer. Funduscopy revealed dispersed macular pigment alterations, and optical coherence tomography showed a disruption of the retinal layers. The visual acuity was counting fingers in both eyes. Nine months later, optical coherence tomography angiography showed a rarefaction in the choriocapillaris vascular flow in the area of the laser injuries. Discussion The retinal layer mainly damaged by the laser injury was the retinal pigment epithelium. However, it is suggested that the laser injury could involve tissues beyond the retinal pigment epithelium, since a rarefaction of the chorioc…
Optical coherence tomography of chorioretinal and choroidal folds
2007
. Purpose: To report the optical coherence tomography (OCT) findings in cases of chorioretinal and choroidal folds. Methods: Eight subjects with folds of the fundus of the eye were examined with fundus photography, fluorescein angiography, B-scan ultrasonography and Stratus OCT. Results: Two types patterns were found on OCT. Five cases showed undulating retinal as well as retinal pigment epithelial lines of normal thickness; these were defined as chorioretinal folds. The posterior vitreous surface often adhered to the crests of the folds only. Three cases exhibited a wavy appearance of the retinal pigment epithelium and a flat retinal surface; these were classified as choroidal folds. Co…
Morphologic diagnosis in neuronal ceroid lipofuscinosis.
1997
Morphologic pathology in NCL is marked by two processes, the interaction of which has not yet been completely clarified: 1) degeneration of nerve cells, foremost in the cerebral cortex, resulting in considerable cerebral atrophy in early childhood forms, likely responsible for clinical and neuroradiological findings; 2) widespread accumulation of autofluorescent lysosomal lipopigments of varying ultrastructure, the demonstration of which is still largely responsible for diagnostic recognition of an individual patient's NCL. Numerous tissues and organs are available for biopsy, among them brain (historical), rectum (still favoured by some), skeletal muscle and peripheral nerves (largely by c…
Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon.
1987
Inquiries to Manuel Diaz Llopis, M.D., Cl Cirilo Amoros No. 1 PTA 2, Valencia 46004, Spain. Familial polyposis of the colon is a dominant autosomal disorder that is characterized by hundreds and sometimes thousands of adenomatous polyps throughout the entire colon, which begin in adolescence. Virtually all pa tients with familial polyposis develop carcino ma of the colon by age 50 years. A total colectomy should be carried out early in adult life in affected persons. Because of the autosomal dominant inheritance pattern, an intensive sur vey of family members must be conducted. There is no phenotype biochemical abnormality or serologic marker that indicates whether a familial member will…