RESUMEN
BACKGROUND: Caucasians with red hair and fair skin have a remarkably increased risk of malignant melanoma compared to non-redhead Caucasians. OBJECTIVES: With the aim of a reliable melanoma diagnosis in redheads, the application of dermatofluoroscopy was analyzed in 16 patients with red hair. Most of them had been included in a clinical dermatofluoroscopy study for patients with the suspicion of melanoma. We examined whether the 25 lesions of the redheads showed the same characteristic melanin fluorescence spectra for dysplastic nevi and melanomas as those of non-redhead Caucasians or whether there was a different fluorescence pattern. This is important in view of the known significantly altered ratio of eumelanin to pheomelanin in the skin of redheads. METHODS: More than 8,000 spatially resolved fluorescence spectra of 25 pigmented lesions were measured and analysed. The spectra were excited by the stepwise absorption of two 800-nm photons (principle of dermatofluoroscopy). Furthermore, the fluorescence spectra of eumelanin and pheomelanin in hair samples were determined in the same way. RESULTS: The evaluation revealed that the melanin fluorescence spectra of dysplastic nevi and melanomas of redheads have the same spectral characteristics as those of non-redhead Caucasians. An accompanying result is that dermatofluoroscopy shows identical fluorescence spectra for eumelanin and pheomelanin. CONCLUSIONS: Dermatofluoroscopy proves to be a reliable diagnostic method also for redheads. Our results also explain our recent finding that there is a uniform fluorescence spectroscopic fingerprint for melanomas of all subtypes, which is of particular interest for hypomelanotic and apparently amelanotic melanomas containing pheomelanin.
Asunto(s)
Fluoroscopía/métodos , Color del Cabello , Melanoma/diagnóstico por imagen , Neoplasias Cutáneas/diagnóstico por imagen , Adulto , Anciano , Detección Precoz del Cáncer , Femenino , Color del Cabello/genética , Humanos , Masculino , Melanoma/etnología , Melanoma/genética , Persona de Mediana Edad , Nevo/diagnóstico por imagen , Nevo/etnología , Nevo/genética , Neoplasias Cutáneas/etnología , Neoplasias Cutáneas/genética , Población Blanca , Adulto JovenRESUMEN
Importance: Nevi are a risk factor for melanoma and other forms of skin cancer, and many of the same factors confer risk for both. Understanding childhood nevus development may provide clues to possible causes and prevention of melanoma. Objectives: To describe nevus acquisition from the ages of 3 to 16 years among white youths and evaluate variation by sex, Hispanic ethnicity, and body sites that are chronically vs intermittently exposed to the sun. Design, Setting, and Participants: This annual longitudinal observational cohort study of nevus development was conducted between June 1, 2001, and October 31, 2014, among 1085 Colorado youths. Data analysis was conducted between February 1, 2015, and August 31, 2017. Main Outcomes and Measures: Total nevus counts on all body sites and on sites chronically and intermittently exposed to the sun separately. Results: A total of 557 girls and 528 boys (150 [13.8%] Hispanic participants) born in 1998 were included in this study. Median total body nevus counts increased linearly among non-Hispanic white boys and girls between the age of 3 years (boys, 6.31; 95% CI, 5.66-7.03; and girls, 6.61; 95% CI, 5.96-7.33) and the age of 16 years (boys, 81.30; 95% CI, 75.95-87.03; and girls, 77.58; 95% CI, 72.68-82.81). Median total body nevus counts were lower among Hispanic white children (boys aged 16 years, 51.45; 95% CI, 44.01-60.15; and girls aged 16 years, 53.75; 95% CI, 45.40-63.62) compared with non-Hispanic white children, but they followed a largely linear trend that varied by sex. Nevus counts on body sites chronically exposed to the sun increased over time but leveled off by the age of 16 years. Nevus counts on sites intermittently exposed to the sun followed a strong linear pattern through the age of 16 years. Hispanic white boys and girls had similar nevus counts on sites intermittently exposed to the sun through the age of 10 years, but increases thereafter were steeper for girls, with nevus counts surpassing those of boys aged 11 to 16 years. Conclusions and Relevance: Youths are at risk for nevus development beginning in early childhood and continuing through midadolescence. Patterns of nevus acquisition differ between boys and girls, Hispanic and non-Hispanic white youths, and body sites that are chronically exposed to the sun and body sites that are intermittently exposed to the sun. Exposure to UV light during this period should be reduced, particularly on body sites intermittently exposed to the sun, where nevi accumulate through midadolescence in all children. Increased attention to sun protection appears to be merited for boys, in general, because they accumulated more nevi overall, and for girls, specifically, during the adolescent years.
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Etnicidad , Nevo/etnología , Evaluación de Programas y Proyectos de Salud , Neoplasias Cutáneas/etnología , Quemadura Solar/prevención & control , Rayos Ultravioleta/efectos adversos , Niño , Preescolar , Estudios de Cohortes , Colorado/epidemiología , Femenino , Estudios de Seguimiento , Humanos , Incidencia , Masculino , Nevo/etiología , Estudios Retrospectivos , Factores de Riesgo , Neoplasias Cutáneas/etiología , Quemadura Solar/complicacionesRESUMEN
IMPORTANCE: Choroidal nevi are a common incidental finding on fundus examination. The National Eye Health Survey (NEHS, 2015-2016) provides an up-to-date estimate of the prevalence of choroidal nevi in non-Indigenous and Indigenous Australian adults. BACKGROUND: To describe the prevalence and characteristics of choroidal nevi among non-Indigenous and Indigenous Australian adults. DESIGN: Population-based cross-sectional study. PARTICIPANTS: This study included 3098 non-Indigenous Australians (aged 50-98 years) and 1738 Indigenous Australians (aged 40-92 years) living in 30 randomly selected sites, stratified by remoteness. METHODS: Choroidal nevi were graded from retinal photographs using standard protocols. MAIN OUTCOME MEASURES: Prevalence of choroidal nevi. RESULTS: In the non-Indigenous population aged 50 years and over, the weighted prevalence of choroidal nevi was 2.1% (95% CI: 1.4, 3.3). Among Indigenous Australians aged 40 years and over, the weighted prevalence of choroidal nevi was 0.68% (95% CI: 0.4, 1.3). The average maximum diameter, surface area and distance from the disc of the choroidal nevi was 1730 µm, 2 766 800 µm2 and 3400 µm, respectively. After multivariate adjustments, Indigenous participants (OR = 0.28, P = 0.01) and those of older age (OR = 0.79 per 10 years, P = 0.02) were less likely to have choroidal nevi. Choroidal nevus was not the primary cause of vision loss in any participant. CONCLUSIONS AND RELEVANCE: Choroidal nevi were relatively infrequent among NEHS participants, however non-Indigenous Australians had a significantly higher prevalence than Indigenous Australians. Choroidal nevi did not affect visual acuity and the majority were small.
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Neoplasias de la Coroides/etnología , Coroides/patología , Encuestas Epidemiológicas , Nativos de Hawái y Otras Islas del Pacífico , Nevo/etnología , Vigilancia de la Población/métodos , Agudeza Visual , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de la Coroides/diagnóstico , Estudios Transversales , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Nevo/diagnóstico , Prevalencia , Estudios Retrospectivos , Factores de Riesgo , Victoria/epidemiologíaRESUMEN
By midcentury, the U.S.A. will be more ethnically and racially diverse. Skin of colour will soon constitute nearly one-half of the U.S. population, and a full understanding of skin conditions that affect this group is of great importance. Structural and functional differences in the skin, as well as the influence of cultural practices, produce variances in skin disease and presentation based on skin type. In the skin of colour population, dyschromia is a growing concern, and a top chief complaint when patients present to the physician. A thorough understanding of the aetiology and management strategies of facial hyperpigmentation is of importance in caring for those afflicted and also in the development of new therapies.
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Dermatosis Facial/etiología , Hiperpigmentación/etiología , Administración Cutánea , Infecciones por Alphavirus/complicaciones , Infecciones por Alphavirus/etnología , Fiebre Chikungunya , Dermabrasión/métodos , Fármacos Dermatológicos/uso terapéutico , Combinación de Medicamentos , Dermatosis Facial/etnología , Dermatosis Facial/terapia , Humanos , Hiperpigmentación/etnología , Hiperpigmentación/terapia , Terapia por Láser/métodos , Liquen Plano/complicaciones , Liquen Plano/etnología , Liquen Plano/terapia , Nevo/complicaciones , Nevo/etnología , Nevo/terapia , Ocronosis/complicaciones , Ocronosis/etnología , Ocronosis/terapia , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/etnología , Neoplasias Cutáneas/terapiaRESUMEN
BACKGROUND/AIM: The diagnosis of palmoplantar melanoma is often delayed and misdiagnosis is common, due to frequently unusual clinical presentation. We used a digital dermoscopy analyzer with a series of palmoplantar pigmented skin lesions (PP-PSL), and we compared sensitivity, specificity and diagnostic accuracy obtained with digital dermoscopy analysis (DDA) and classical dermoscopy. METHODS: Digital dermoscopy images of 107 PP-PSL were retrospectively obtained from the database of images of 3 Italian centers. The lesions (25 melanomas and 82 nevi) were all removed because of the presence of clinical and/or dermoscopic suspicious features. All digital images were analyzed using appropriate algorithms, and the diagnostic accuracy of the model was calculated. For comparison, dermoscopic images were clinically evaluated by two dermatologists and the Cohen ĸ concordance with DDA was calculated. RESULTS: The stepwise logistic regression analysis selected only 5 parameters out of 49. The logistic model achieved a sensitivity of 96% and a specificity of 87.8%. The Cohen ĸ concordance, evaluated by the Landis and Koch scale, supplied a substantial agreement between dermoscopy and DDA. CONCLUSIONS: DDA might be a useful diagnostic instrument in the evaluation of preselected PP-PSL. However, these findings should be confirmed in a formal clinical trial.
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Melanoma/diagnóstico , Nevo/diagnóstico , Trastornos de la Pigmentación/diagnóstico , Neoplasias Cutáneas/diagnóstico , Población Blanca , Adulto , Anciano , Anciano de 80 o más Años , Algoritmos , Dermoscopía/métodos , Diagnóstico Diferencial , Femenino , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Nevo/etnología , Trastornos de la Pigmentación/etnología , Estudios Retrospectivos , Neoplasias Cutáneas/etnología , Adulto JovenRESUMEN
BACKGROUND: CHILD syndrome, a rare hereditary disorder of keratinization (MIM 308050, 300275), is the acronym proposed by Happle to name a rare entity, characterized by congenital hemidysplasia, icthyosiform nevus and limb defects, ranging from digital hypoplasia to icthyosiform nevus and ipsilateral limb defects, ranging from digital hypoplasia to complete amelia. PATIENTS AND METHODS: A 9-month-old female infant presented with skin and limb defects involving the right side of her body. Clinical and laboratory evaluation was performed, including DNA sequence analysis of the NSDHL gene. RESULTS: Our patient presented with some of the typical clinical characteristics of CHILD syndrome, i.e. two large erythematous plaques with sharp borders, covered with yellow, wax-like scaling, on the right axilla and on the right groin, dysplastic right hand and alopecia of the right occipital area. The diagnosis was confirmed by DNA screening analysis, that detected a missense mutation c.314C-->T;p-A105V, in the coding region of the NSDHL gene (exon4) of our patient. CONCLUSIONS: This is the first report of CHILD syndrome ever reported in Greece. We suggest that the diagnosis of the syndrome is important for patient information and genetic counselling.
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3-Hidroxiesteroide Deshidrogenasas/genética , Eritema/genética , Deformidades Congénitas de las Extremidades/genética , Nevo/genética , Eritema/etnología , Femenino , Grecia , Humanos , Lactante , Deformidades Congénitas de las Extremidades/etnología , Mutación Missense/genética , Nevo/etnología , SíndromeRESUMEN
Familial cerebral cavernous malformation (CCM) is an autosomal dominant disorder producing vascular anomalies throughout the central nervous system associated with seizures and hemorrhagic stroke. Linkage analysis has shown evidence for at least three genetic loci underlying this disorder with a founder mutation in the Mexican/Hispanic community. We report the first family of Chinese ethnic origin with CCM having a novel mutation in the CCM1 gene. The mutation in exon 19 causes a premature stop codon (Q698X) predicted to produce a truncated Krev1 interaction-trapped 1 (KRIT1) protein. Members of the family with this mutation have a wide range in age of onset with seizures, ataxia, spinal cord vascular malformation, headaches and skin lesions. An additional unrelated sporadic subject with brain lesions compatible with CCM as well as vascular skin findings suggesting the blue rubber bleb nevus (BRBN) syndrome has no mutation detected in the CCM1 gene. These findings expand the phenotype of and demonstrate further evidence for the heterogeneity in the CCM syndrome.
Asunto(s)
Encéfalo/patología , Arterias Cerebrales/patología , Codón sin Sentido/genética , Variación Genética/fisiología , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Proteínas Asociadas a Microtúbulos , Nevo/genética , Adulto , Anciano , Encéfalo/irrigación sanguínea , Encéfalo/fisiopatología , Arterias Cerebrales/fisiopatología , Niño , China , Cromosomas Humanos Par 7/genética , Análisis Mutacional de ADN , Exones/genética , Femenino , Hemangioma Cavernoso del Sistema Nervioso Central/patología , Humanos , Proteína KRIT1 , Masculino , Metiltransferasas/genética , Metiltransferasas/metabolismo , Persona de Mediana Edad , Nevo/complicaciones , Nevo/etnología , Linaje , Fenotipo , Proteínas Proto-Oncogénicas/genética , Proteínas Proto-Oncogénicas/metabolismoRESUMEN
Conjunctival melanotic lesions in Chinese were studied and compared with those of Caucasians. These lesions were diagnosed in Chinese patients over a two-year period. They were excised under the clinical diagnoses of nevi, primary acquired melanosis (PAM) and malignant melanoma. For the cases included, the histology slides and clinical information were reviewed. Eighteen cases of nevi and nine non-nevoid lesions were identified. Among the non-nevoid lesions, there were eight cases of basal cell hyperpigmentation (one congenital, five acquired, two unknown) and one malignant melanoma. Benign or atypical melanocytic hyperplasias (MH) were not seen. This pattern is very different from that of Caucasian series. Acquired hyperpigmentation is almost only seen in Chinese and seldom in Caucasians. On the other hand, atypical MH is only seen in Caucasians, and not in Chinese. We conclude that conjunctival hyperpigmentation is associated with ethnicity and does not progress to MH, whether benign or atypical. It should be recognised as a distinct entity of no malignant potential that is part of the PAM clinical spectrum.
Asunto(s)
Neoplasias de la Conjuntiva/epidemiología , Melanoma/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Enfermedades de la Conjuntiva/epidemiología , Enfermedades de la Conjuntiva/etnología , Neoplasias de la Conjuntiva/etnología , Femenino , Hong Kong , Humanos , Masculino , Melanoma/etnología , Melanosis/epidemiología , Melanosis/etnología , Persona de Mediana Edad , Nevo/epidemiología , Nevo/etnología , Grupos RacialesRESUMEN
Four black children with Spitz nevi are presented. The initial clinical diagnosis was pyogenic granuloma for three patients. One child had two Spitz nevi. Histologic examination revealed melanocytic dendritic hyperplasia in all cases.
Asunto(s)
Población Negra , Nevo/etnología , Neoplasias Cutáneas/etnología , Adolescente , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Hiperplasia , Masculino , Melanoma/patología , Nevo/patología , Nevo/cirugía , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/cirugíaRESUMEN
The preponderance of malignant melanomas that occur in the Japanese population affect the palmar and plantar areas, in contrast to those of whites, which occur predominantly on the head, neck, and trunk. Furthermore, a precursor lesion, the dysplastic nevus, has been well defined in nonacral white skin but not in the Japanese. In this paper, a similarity between benign and atypical acral nevomelanocytic proliferations in Japanese and whites is described. However, it appears that in the Japanese group the melanocytes in benign and atypical proliferations are less dendritic than those noted in whites, and, in both groups, extensive pigmentation was noted in both the epidermal and dermal components of benign and malignant lesions in this limited review. A practical approach to classifications of atypism is, likewise, offered.