RESUMEN
The cutaneous findings associated with Sturge-Weber syndrome (SWS) are characterized by a port-wine stain at the site of the first branching of the trigeminal nerve. Recently, a new vascular classification for the port-wine stain is proposed in association with SWS. There is no consensus regarding the screening of SWS, but suspected cases of SWS are recommended for early referral to ophthalmologists. Magnetic resonance imaging (MRI) of the brain in infants, when they are younger than 6 months, leaves the possibility of false-negatives of SWS.
Asunto(s)
Piel/patología , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Sturge-Weber/patología , Encéfalo/diagnóstico por imagen , Humanos , Lactante , Imagen por Resonancia Magnética , Mancha Vino de Oporto/patología , Nervio TrigéminoAsunto(s)
Eosinofilia/patología , Trastornos de la Pigmentación/diagnóstico , Trastornos de la Pigmentación/patología , Piel/patología , Diagnóstico Diferencial , Eosinofilia/diagnóstico , Eosinofilia/genética , Femenino , Genes Dominantes , Humanos , Quinasa I-kappa B/genética , Recién Nacido , Trastornos de la Pigmentación/genética , Derivación y ConsultaRESUMEN
BACKGROUND: Recent reports indicated that nonsense mutations in filaggrin (FLG) found in ichthyosis vulgaris (IV) patients are predisposing factors for atopic dermatitis (AD) with asthma. The exon 3 of FLG contains tandemly repeated, highly homologous, 11-13 sequence units of 972 or 975 bp, each of which corresponds to the coding sequence of the processed filaggrin with slight sequence difference. This unique gene structure has hampered the precise DNA sequence determination. OBJECTIVE: We developed a novel DNA sequencing method "FLG-shotgun" to directly characterize the mutations in Japanese AD patients. METHODS: We examined 24 Japanese AD patients with "FLG-shotgun" method. RESULTS: Multiple units of FLG were amplified by PCR using several sets of common primers for the conserved regions, and DNA sequences of each cloned PCR product were determined. Multiple reads of DNA sequences in both alleles were aligned and re-constructed to cover the entire coding regions. We found three major genotypes (A, B, and C) which represent different numbers (11-13) of homologous sequence units. Furthermore, we found two novel nonsense mutations; one mutation 8666-8667CC>GA on the unit 9 of allele B that causes a nonsense mutation S2899X in two patients and the other mutation 9887C>A on the unit 10 of allele B that causes a nonsense mutation S3296X in two patients. CONCLUSION: We found two novel FLG mutations by directly analyzing Japanese patients with AD. FLG-shotgun will provide a valuable tool to further define the nature of the AD phenotype associated with FLG mutations.
Asunto(s)
ADN/genética , Dermatitis Atópica/genética , Proteínas de Filamentos Intermediarios/genética , Análisis de Secuencia de ADN/métodos , Alelos , Codón sin Sentido/genética , Dermatitis Atópica/sangre , Dermatitis Atópica/etnología , Proteínas Filagrina , Genotipo , Humanos , Proteínas de Filamentos Intermediarios/sangre , Japón , Reacción en Cadena de la PolimerasaRESUMEN
Acne vulgaris significantly affects patients' quality of life (QOL) and their lives in various ways, including social behavior and body dissatisfaction. This may be heightened by acne's typical involvement of the face. We investigated whether the use of skin care and makeup could influence the QOL of affected patients without deteriorating conventional acne treatments. Fifty female patients with acne were recruited for our study. Twenty-five patients were instructed how to use skin care and cosmetics, while 25 patients received no specific instructions from dermatologists. Both groups received conventional topical and/or oral medication for acne during the study period for 4 weeks. Both groups did not show any significant difference in clinical improvement of acne severity. Two validated QOL questionnaires, World Health Organization (WHO)QOL26 and the Dermatology Life Quality Index (DLQI) were administered to all patients at first visit and 4 weeks later. The mean scores of psychological and overall domains in WHOQOL26 for patients with instructions were improved significantly, while only the overall score was significantly improved for patients without instructions. The total mean scores and all domains except work/school in DLQI for patients with instructions were improved significantly, while the total scores and all domains except discomfort for treatment in DLQI were significantly improved for patients without instructions. Thus, instructions on the use of skin care and cosmetics for female acne patients did not deteriorate acne treatment and influenced patients' QOL effectively. We therefore suggest that instructions for using skin care and cosmetics complement conventional medical treatments for acne.
