RESUMEN
BACKGROUND: Previous studies at single academic institutions have identified variations in the prevalence of photodermatoses among racial groups. The purpose of the study was to compare the distribution of photodermatoses between Whites and Blacks at four academic medical centers in the USA. METHODS: A retrospective chart review was performed at four institutions' general dermatology clinics using diagnoses consistent with the International Classification of Disease (ICD), Ninth and Tenth Revisions, codes related to photodermatoses between August 2006 and August 2016. A total of 9736 charts were manually reviewed and classified. Analyses were performed analyzing the frequency of photodermatoses between Whites and Blacks in the pooled data. RESULTS: There were 1,080 patients with photodermatoses identified. Statistically significant differences in the frequency of photodermatoses between Whites and Blacks were identified for polymorphous light eruption (more common in Blacks), photoallergic contact dermatitis, phototoxic drug eruption, phytophotodermatitis, porphyria, and solar urticaria (more common in Whites). The most commonly diagnosed photodermatoses were polymorphous light eruption (total 672), and photodermatitis not otherwise specified (total 189). CONCLUSION: Our study demonstrated significantly higher proportions of polymorphous light eruption in Blacks, and higher proportions of photoallergic contact dermatitis, phototoxic drug eruptions, phytophotodermatitis, porphyrias, and solar urticaria in Whites.
Asunto(s)
Negro o Afroamericano/estadística & datos numéricos , Trastornos por Fotosensibilidad/etnología , Población Blanca/estadística & datos numéricos , Centros Médicos Académicos , Dermatitis Fotoalérgica/etnología , Dermatitis Fototóxica/etnología , Dermatología , Humanos , Servicio Ambulatorio en Hospital , Porfirias/etnología , Estudios Retrospectivos , Luz Solar/efectos adversos , Estados Unidos/epidemiología , Urticaria/etnología , Urticaria/etiologíaRESUMEN
Mutation analysis was performed on DNA samples of 965 individuals from four different ethnic groups in South Africa, in an attempt to determine the spectrum of sequence variants in the haemochromatosis ( HFE ) gene. This population screening approach, utilizing a combined heteroduplex and single-strand conformation polymorphism (HEX-SSCP) method, revealed three previously described and four novel missense mutations. Novel variants V53M and V59M were identified in exon 2, Q127H in exon 3 and R330M in exon 5. The exon 5 variant was identified in one of 13 patients referred for a molecular diagnosis of hereditary haemochromatosis (HH), who tested negative for the known C282Y and H63D mutations. Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. The mutant allele frequency of the C282Y mutation was found to be significantly lower in 73 apparently unrelated VP patients with the R59W mutation than in 102 controls drawn from the same population ( P = 0.005). The population screening approach used in this study revealed considerable genotypic variation in the HFE gene and supports previous data on the involvement of this gene in the porphyria phenotype.
Asunto(s)
Antígenos HLA/genética , Hemocromatosis/genética , Antígenos de Histocompatibilidad Clase I/genética , Proteínas de la Membrana , Porfirias/genética , Sustitución de Aminoácidos , Secuencia de Bases , Población Negra/genética , Niño , ADN/química , ADN/genética , Análisis Mutacional de ADN , Femenino , Genotipo , Hemocromatosis/etnología , Proteína de la Hemocromatosis , Análisis Heterodúplex , Humanos , Masculino , Mutación , Mutación Puntual , Polimorfismo Conformacional Retorcido-Simple , Porfirias/etnología , Sudáfrica/epidemiología , Población Blanca/genéticaRESUMEN
Acute intermittent porphyria (AIP) is an autosomal dominant metabolic disorder affecting the enzyme porphobilinogen (PBG) deaminase in the heme biosynthetic pathway. The highest prevalence of the disorder has been observed in Scandinavia, especially in northern Sweden (Lappland) where it occurs with a prevalence of 1 in 1500. Biochemical assays of the activity and concentration of PBG deaminase in red blood cells, haplotyping with 4 intragenic restriction fragment length polymorphisms (RFLPs) (MspI, PstI, BstNI, ApaLI) using the polymerase chain reaction (PCR) and screening for known base substitutions by oligonucleotide probes was performed in 28 Swedish AIP families. There was no close relationship between haplotype, biochemical findings (PBG deaminase activity, enzyme-linked immunosorbent assay [ELISA], and excess urinary excretion of delta-aminolevulinic acid or PBG), and a specific mutation. Three different haplotypes were identified. The haplotype 2/1/1/2 (MspI/PstI/BstNI/ApaLI; +/-/-/+) was found to be the most frequent among gene carriers (P less than 0.001). The disease segregated with the haplotype 2/1/1/2 in the 10 families originating from northern Sweden. All 28 families were screened for three known point mutations. Only one was found to carry one of these mutations. Thus, the genetic background of AIP is heterogeneous in Sweden.
Asunto(s)
Hidroximetilbilano Sintasa/genética , Porfirias/genética , Alelos , Secuencia de Bases , Ensayo de Inmunoadsorción Enzimática , Femenino , Variación Genética , Genética de Población , Haplotipos , Humanos , Masculino , Datos de Secuencia Molecular , Mutación , Hibridación de Ácido Nucleico , Sondas de Oligonucleótidos , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo de Longitud del Fragmento de Restricción , Porfirias/etnología , SueciaRESUMEN
Restriction fragment length polymorphism (RFLP) analysis was performed in three Finnish families with different subtypes of acute intermittent porphyria (AIP): 1) cross-reacting immunological material (CRIM)-negative with low erythrocyte porphobilinogen (PBG)-deaminase activity, 2) CRIM-positive with low PBG-deaminase activity and 3) CRIM-negative with normal PBG-deaminase activity. The disease-associated RFLP haplotype (A2B1C2) of the PBG-deaminase gene was the same in each family. In all three families, RFLP linkage analysis resulted in highly positive lod scores. The maximal lod score (4.3) was obtained at the recombinant fraction of zero, thus confirming a tight linkage of AIP to the PBG-deaminase locus. Of the 62 family members tested, 30 had the disease-associated haplotype; in 5 of them, conventional tests for AIP were normal and in one, uncertain. RFLP analysis can thus reveal new gene carriers and help in the diagnosis of individuals with uncertain results in other laboratory tests.
Asunto(s)
Alelos , Amoníaco-Liasas/genética , Frecuencia de los Genes , Haplotipos/genética , Hidroximetilbilano Sintasa/genética , Polimorfismo de Longitud del Fragmento de Restricción , Porfirias/genética , Enfermedad Aguda , Salud de la Familia , Femenino , Finlandia , Heterocigoto , Humanos , Masculino , Linaje , Porfirias/clasificación , Porfirias/enzimología , Porfirias/etnologíaAsunto(s)
Porfirias/etnología , Enfermedad Aguda , Adolescente , Femenino , Humanos , Porfirias/diagnóstico , Trinidad y TobagoRESUMEN
We report the first case of acute intermittent porphyria in Trinidad and Tobago. This condition is most commonly described in people of European origin and is considered to be rare in blacks. This girl is of African descent and has no family history of acute intermittent porphyria (AU)
Asunto(s)
Adolescente , Femenino , Humanos , Porfirias/etnología , Enfermedad Aguda , Porfirias/diagnóstico , Trinidad y TobagoRESUMEN
We report the first case of acute intemittent poprphyria in Trinidad anbd Tobago. This condition is most commonly described in people of European origin and is considered to be rare in blacks. This girl is of African descent and has no family history of acute intermittent porphyria
