RESUMEN
Thalidomide has been used as an effective treatment for prurigo nodularis (PN) with a median dose of 200 mg, but the risk of peripheral neuropathy precludes long-term use. We analysed the efficacy of low-dose thalidomide (< 100 mg) in 17 patients with recalcitrant PN. Patients were initiated on thalidomide 50 mg on alternate days, and the dose was increased (doubled) in a stepwise manner, if needed, until a ≥ 50% reduction in score (partial response; PR) on a visual analogue scale (VAS) was achieved. Thalidomide then was continued at the same dose for 4 weeks to achieve ≥ 90% decrease in VAS score; if this was not achieved, the dose was increased to a maximum of 100 mg and continued until complete resolution of lesions (complete response; CR). Four patients discontinued thalidomide due to adverse effects. Four patients achieved PR, while 9 patients (n = 2 with 50 mg, n = 7 with 100 mg) achieved CR. No patient developed neuropathy. In addition, complete responders achieved an earlier ≥ 50% reduction in VAS score. Two patients relapsed after 12 months but responded to thalidomide 50 mg.
Asunto(s)
Inmunosupresores/administración & dosificación , Prurigo/tratamiento farmacológico , Talidomida/administración & dosificación , Adulto , Antipruriginosos/administración & dosificación , Esquema de Medicación , Femenino , Humanos , Inmunosupresores/efectos adversos , Masculino , Talidomida/efectos adversosRESUMEN
Erythema annulare centrifugum (EAC) is a form of figurate erythema consequent to a cutaneous hypersensitivity reaction to an underlying agent. In the present study, we aimed to assess the role of oral azithromycin in cases of idiopathic EAC. We performed an open trial of azithromycin in 10 patients with idiopathic EAC. Histopathological examination of biopsies was performed to exclude any alternative diagnosis and to assess the depth of the infiltrate. Patients were administered oral azithromycin 250 mg once daily until clinical resolution of the disease, and followed up regularly to monitor for possible relapse. Histopathological examination of the 10 biopsies revealed superficial pattern in 3, deep pattern in 2 and mixed pattern in the remaining 5. Of the 10 patients, 8 responded to azithromycin 250 mg, with no relapse during follow-up. Oral azithromycin might be a promising therapy in cases of idiopathic EAC. Cases with a superficial pattern respond earlier than cases with a deep pattern.
Asunto(s)
Antibacterianos/uso terapéutico , Azitromicina/uso terapéutico , Eritema/tratamiento farmacológico , Enfermedades Cutáneas Genéticas/tratamiento farmacológico , Administración Oral , Adulto , Biopsia , Niño , Eritema/patología , Femenino , Humanos , Masculino , Enfermedades Cutáneas Genéticas/patología , Adulto JovenRESUMEN
Spinocerebellar ataxia type 1 (SCA1) is the major and likely the only type of autosomal dominant cerebellar ataxia in the Sakha (Yakut) people of Eastern Siberia. The prevalence rate of SCA1 has doubled over the past 21 years peaking at 46 cases per 100,000 rural population. The age at death correlates closely with the number of CAG triplet repeats in the mutant ATXN1 gene (r = -0.81); most patients with low-medium (39-55) repeat numbers survived until the end of reproductive age. The number of CAG repeats expands in meiosis, particularly in paternal transmissions; the average total increase in intergenerational transmissions in our cohort was estimated at 1.6 CAG repeats. The fertility rates of heterozygous carriers of 39-55 CAG repeats in women were no different from those of the general Sakha population. Overall, the survival of mutation carriers through reproductive age, unaltered fertility rates, low childhood mortality in SCA1-affected families, and intergenerational transmission of increasing numbers of CAG repeats in the ATXN1 gene indicate that SCA1 in the Sakha population will be maintained at high prevalence levels. The low (0.19) Crow's index of total selection intensity in our SCA1 cohort implies that this mutation is unlikely to be eliminated through natural selection alone.
Asunto(s)
Ataxina-1/genética , Aptitud Genética , Selección Genética , Ataxias Espinocerebelosas/epidemiología , Ataxias Espinocerebelosas/genética , Adulto , Anciano , Anciano de 80 o más Años , Tasa de Natalidad , Estudios de Cohortes , Femenino , Heterocigoto , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Mutación , Siberia/epidemiologíaAsunto(s)
Arthrodermataceae , Epidemias , Preparaciones Farmacéuticas , Antifúngicos/uso terapéutico , Fluconazol , Griseofulvina , Humanos , India , Itraconazol , TerbinafinaAsunto(s)
Dermatosis del Pie/tratamiento farmacológico , Inmunosupresores/uso terapéutico , Leflunamida/uso terapéutico , Liquen Plano/tratamiento farmacológico , Úlcera Cutánea/tratamiento farmacológico , Femenino , Humanos , Liquen Plano/complicaciones , Persona de Mediana Edad , Úlcera Cutánea/complicacionesAsunto(s)
Acné Vulgar/tratamiento farmacológico , Antiinflamatorios/uso terapéutico , Artritis Infecciosa/tratamiento farmacológico , Dapsona/uso terapéutico , Fármacos Dermatológicos/uso terapéutico , Metotrexato/uso terapéutico , Minociclina/uso terapéutico , Pregnenodionas/uso terapéutico , Piodermia Gangrenosa/tratamiento farmacológico , Acné Vulgar/economía , Acné Vulgar/patología , Antiinflamatorios/administración & dosificación , Antiinflamatorios/economía , Artritis Infecciosa/economía , Artritis Infecciosa/patología , Análisis Costo-Beneficio , Dapsona/administración & dosificación , Fármacos Dermatológicos/administración & dosificación , Fármacos Dermatológicos/economía , Quimioterapia Combinada/economía , Humanos , Metotrexato/administración & dosificación , Minociclina/administración & dosificación , Pregnenodionas/administración & dosificación , Piodermia Gangrenosa/economía , Piodermia Gangrenosa/patología , Piel/patologíaAsunto(s)
Nevo de Ota/diagnóstico , Neoplasias Cutáneas/diagnóstico , Adulto , Edad de Inicio , Femenino , Humanos , Láseres de Estado Sólido/uso terapéutico , Masculino , Persona de Mediana Edad , Nevo de Ota/radioterapia , Enfermedades de la Esclerótica/diagnóstico , Neoplasias Cutáneas/radioterapiaAsunto(s)
Anfotericina B/uso terapéutico , Antiprotozoarios/uso terapéutico , Leishmaniasis Cutánea/tratamiento farmacológico , Leishmaniasis Cutánea/patología , Anfotericina B/administración & dosificación , Antiinfecciosos/administración & dosificación , Antiinfecciosos/uso terapéutico , Antiprotozoarios/administración & dosificación , Femenino , Humanos , Leishmania donovani/aislamiento & purificación , Leishmaniasis Cutánea/parasitología , Lípidos/farmacología , Persona de Mediana Edad , Pomadas/administración & dosificación , Ácido Salicílico/administración & dosificación , Ácido Salicílico/uso terapéutico , Resultado del TratamientoAsunto(s)
Compuestos de Aluminio/administración & dosificación , Antineoplásicos/administración & dosificación , Cloruros/administración & dosificación , Hidrocistoma/tratamiento farmacológico , Neoplasias de las Glándulas Sudoríparas/tratamiento farmacológico , Administración Tópica , Adulto , Femenino , Humanos , Resultado del TratamientoRESUMEN
We report two patients with an uncommon form of pigmented naevus consisting of grouped follicular papules. A biopsy taken from the lesions showed multiple naevus cells, predominantly around the hair follicles, with sparing of the eccrine glands. The clinicohistopathological term given for this condition is 'spotted grouped pigmented naevi type I', and has rarely been reported. We discuss the unusual morphology and differential diagnosis of this condition, and suggest that the term 'congenital follicular melanocytic naevi' is more appropriate for this presentation.
Asunto(s)
Nevo Pigmentado/congénito , Neoplasias Cutáneas/congénito , Terminología como Asunto , Preescolar , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Nevo Pigmentado/patología , Neoplasias Cutáneas/patología , Adulto JovenRESUMEN
BACKGROUND: In view of the potentially serious side-effects of standard isotretinoin (0.5-1.0 mg/kg per day) therapy for acne, we studied the safety and efficacy of low-fixed dose isotretinoin plus topical 1%clindamycin gel in the treatment of moderate grade of acne. METHODS: In this prospective, non-comparative study, 320 adult patients, with moderately severe acne were enrolled and treated with fixed-dose isotretinoin at 20 mg every alternate day (approximately 0.15 mg/kg/day to 0.28 mg/kg/day) for 6 months along with topical clindamycin gel. All female patients were assessed for polycystic ovarian disease. Patients were followed up for 6 months. RESULTS: A total of 305 patients completed the study. Overall, patients received a mean of 38.4 mg/kg cumulative dose of isotretinoin, and very good results were observed in 208 (68.20%), while good response was seen in 59 (19.34%) of patients. Failure of the treatment occurred in 38 (12.46%), while relapses occurred in 50 (16.39%) of patients. Relapses were commoner in females, and 37 of 43 (86.04%) patients had polycystic ovarian disease. Though mild chelitis (91%) and xerosis (43%) were common, laboratory abnormalities in the form of elevated hepatic enzymes (5%) and elevated serum lipids (6%) were rare. CONCLUSION: Six months of treatment with fixed-dose, alternate-day isotretinoin (20 mg) plus topical 1%clindamycin gel was found to be effective in the treatment of moderate acne in adult patients, with a low incidence of side-effects.
Asunto(s)
Acné Vulgar/tratamiento farmacológico , Antibacterianos/administración & dosificación , Clindamicina/administración & dosificación , Fármacos Dermatológicos/administración & dosificación , Isotretinoína/administración & dosificación , Administración Tópica , Adolescente , Adulto , Antibacterianos/uso terapéutico , Niño , Clindamicina/uso terapéutico , Fármacos Dermatológicos/uso terapéutico , Relación Dosis-Respuesta a Droga , Esquema de Medicación , Femenino , Humanos , Isotretinoína/uso terapéutico , Masculino , Estudios Prospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
Granulomatous cheilitis is a chronic granulomatous inflammation of the lips that can be secondary to various etiologies. A few infectious agents including Mycobacterium tuberculosis have been implicated in its etiology. It can be the clinical presentation of a tuberculide resulting from a hypersensitivity reaction to an underlying focus of tuberculosis such as pulmonary tuberculosis. This case report describes a child with granulomatous cheilitis with pulmonary tuberculosis, who responded to anti-tubercular treatment. This is probably the first pediatric case of this rare condition.
Asunto(s)
Antituberculosos/uso terapéutico , Síndrome de Melkersson-Rosenthal/etiología , Tuberculosis Pulmonar/complicaciones , Preescolar , Diagnóstico Diferencial , Humanos , Masculino , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/tratamiento farmacológico , Examen Físico , Radiografía Torácica , Prueba de Tuberculina , Tuberculosis Pulmonar/diagnóstico , Tuberculosis Pulmonar/tratamiento farmacológicoRESUMEN
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking intronic regions of the GJB2 gene have not been described thoroughly in the Sakha Republic (Yakutia), which is located in a subarctic region in Russia. The complete sequencing of the non-coding and coding regions of the GJB2 gene was performed in 393 patients with HI (Yakuts-296, Russians-51, mixed and other ethnicities-46) and in 187 normal hearing individuals of Yakut (n = 107) and Russian (n = 80) populations. In the total sample (n = 580), we revealed 12 allelic variants of the GJB2 gene, 8 of which were recessive pathogenic variants. Ten genotypes with biallelic recessive pathogenic variants in the GJB2 gene (in a homozygous or a compound heterozygous state) were found in 192 out of 393 patients (48.85%). We found that the most frequent GJB2 pathogenic variant in the Yakut patients was c.-23+1G>A (51.82%) and that the second most frequent was c.109G>A (2.37%), followed by c.35delG (1.64%). Pathogenic variants Ñ.35delG (22.34%), c.-23+1G>A (5.31%), and c.313_326del14 (2.12%) were found to be the most frequent among the Russian patients. The carrier frequencies of the c.-23+1G>A and Ñ.109G>A pathogenic variants in the Yakut control group were 10.20% and 2.80%, respectively. The carrier frequencies of Ñ.35delG and c.101T>C were identical (2.5%) in the Russian control group. We found that the contribution of the GJB2 gene pathogenic variants in HI in the population of the Sakha Republic (48.85%) was the highest among all of the previously studied regions of Asia. We suggest that extensive accumulation of the c.-23+1G>A pathogenic variant in the indigenous Yakut population (92.20% of all mutant chromosomes in patients) and an extremely high (10.20%) carrier frequency in the control group may indicate a possible selective advantage for the c.-23+1G>A carriers living in subarctic climate.
Asunto(s)
Conexinas/genética , Pérdida Auditiva/genética , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN/métodos , Adolescente , Adulto , Regiones Árticas , Conexina 26 , Exones , Femenino , Frecuencia de los Genes , Pérdida Auditiva/etnología , Humanos , Masculino , Federación de Rusia/etnología , Adulto JovenRESUMEN
BACKGROUND: Dermatopathia pigmentosa reticularis (DPR) is a very rare autosomal dominant disorder with the diagnostic triad of generalized reticulate hyperpigmentation, noncicatricial alopecia and onychodystrophy. OBJECTIVE: To describe the occurrence of Salzmann's nodular degeneration of cornea with moderate dry eye in a patient with Dermatopathia pigmentosa reticularis. CASE: We present an 11 year old young Indian girl with DPR who had Salzmann's nodular degeneration of cornea with moderate dry eye. She was put on symptomatic treatment and counseled regarding the course of disease, familial nature and avoidance of exposure to sun. CONCLUSION: In a patient of Salzmann`s nodular degeneration with generalized reticulate hyperpigmentation, noncicatricial alopecia and onychodystrophy the diagnosis of DPR must be kept in mind. A multidisciplinary approach is required for the management of such cases.
Asunto(s)
Alopecia/complicaciones , Distrofias Hereditarias de la Córnea/complicaciones , Hiperpigmentación/complicaciones , Enfermedades de la Uña/complicaciones , Neoplasias Cutáneas/complicaciones , Alopecia/genética , Carboximetilcelulosa de Sodio/administración & dosificación , Niño , Cromosomas Humanos Par 17/genética , Distrofias Hereditarias de la Córnea/tratamiento farmacológico , Distrofias Hereditarias de la Córnea/genética , Síndromes de Ojo Seco/complicaciones , Síndromes de Ojo Seco/tratamiento farmacológico , Síndromes de Ojo Seco/genética , Femenino , Humanos , Hiperpigmentación/genética , Queratolíticos/administración & dosificación , Enfermedades de la Uña/genética , Soluciones Oftálmicas/administración & dosificación , Neoplasias Cutáneas/genética , Tretinoina/administración & dosificaciónRESUMEN
This study aims to highlight the importance of screening all HIV positive women for various reproductive tract infections/sexually transmitted infections (RTIs/STIs) irrespective of symptoms and to determine its occurrence in asymptomatic HIV positive women. Relevant specimens were collected for diagnosis of various RTIs/STIs. STIs were diagnosed in nearly one-third of the HIV positive asymptomatic patients which is quite high. The national strategy for STIs/RTIs control misses out large number of asymptomatic RTIs/STIs in HIV positive women which is responsible for silently transmitting these infections in the community. So this strategy should be modified to include screening of all HIV positives women irrespective of symptoms of STIs/RTIs.