RESUMEN
Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and its treatment. Patients were recruited via "Network Therapy of Rare Epilepsies (NETRE)" and an international NCBRS parent support group. Inclusion criterion is NCBRS-defining SMARCA2 mutation. Clinical findings including epilepsy classification, anticonvulsive treatment, electroencephalogram (EEG) findings, and neurodevelopmental outcome were collected with an electronic questionnaire. Inclusion of 25 NCBRS patients with epilepsy in 23 of 25. Overall, 85% of the participants (17/20) reported generalized seizures, the semiology varied widely. EEG showed generalized epileptogenic abnormalities in 53% (9/17), cranial magnetic resonance imaging (cMRI) was mainly inconspicuous. The five most frequently used anticonvulsive drugs were valproic acid (VPA [12/20]), levetiracetam (LEV [12/20]), phenobarbital (PB [8/20]), topiramate (TPM [5/20]), and carbamazepine (CBZ [5/20]). LEV (9/12), PB (6/8), TPM (4/5), and VPA (9/12) reduced the seizures' frequency in more than 50%. Temporary freedom of seizures (>6 months) was reached with LEV (4/12), PB (3/8), TPM (1/5, only combined with PB and nitrazepam [NZP]), and VPA (4/12). Seizures aggravation was observed under lamotrigine (LTG [2/4]), LEV (1/12), PB (1/8), and VPA (1/12). Ketogenic diet (KD) and vagal nerve stimulation (VNS) reduced seizures' frequency in one of two each. This first worldwide retrospective analysis of anticonvulsive therapy in NCBRS helps to treat epilepsy in NCBRS that mostly shows only initial response to anticonvulsive therapy, especially with LEV and VPA, but very rarely shows complete freedom of seizures in this, rather genetic than structural epilepsy.
Asunto(s)
Anticonvulsivantes/farmacología , Epilepsia/terapia , Deformidades Congénitas del Pie/terapia , Hipotricosis/terapia , Discapacidad Intelectual/terapia , Adolescente , Niño , Preescolar , Dieta Cetogénica , Electroencefalografía , Epilepsia/diagnóstico , Epilepsia/etiología , Epilepsia/fisiopatología , Facies , Femenino , Deformidades Congénitas del Pie/complicaciones , Deformidades Congénitas del Pie/diagnóstico , Deformidades Congénitas del Pie/fisiopatología , Humanos , Hipotricosis/complicaciones , Hipotricosis/diagnóstico , Hipotricosis/fisiopatología , Lactante , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/fisiopatología , Masculino , Evaluación de Resultado en la Atención de Salud , Estudios Retrospectivos , Factores de Transcripción/genética , Estimulación del Nervio VagoAsunto(s)
Carcinoma Basocelular/diagnóstico , Hipotricosis/diagnóstico , Mieloma Múltiple/diagnóstico , Fenotipo , Neoplasias Cutáneas/diagnóstico , Piel/patología , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Biopsia , Médula Ósea/patología , Carcinoma Basocelular/terapia , Diagnóstico Diferencial , Femenino , Humanos , Hipotricosis/terapia , Persona de Mediana Edad , Mieloma Múltiple/terapia , Tomografía Computarizada por Tomografía de Emisión de Positrones , Neoplasias Cutáneas/terapia , Evaluación de Síntomas , Resultado del TratamientoRESUMEN
The coronavirus disease-19 (COVID-19) has spread over many countries and regions since the end of 2019, becoming the most severe public health event at present. Most of the critical cases developed multiple organ dysfunction, including acute kidney injury (AKI). Cytokine storm syndrome (CSS) may complicate the process of severe COVID-19 patients. This manuscript reviews the different aspects of blood purification in critically ill patients with AKI and increased inflammatory factors, and examines its potential role in severe COVID-19 treatment. Continuous renal replacement therapy (CRRT) has been practiced in many sepsis patients with AKI. Still, the timing and dosing need further robust evidence. In addition to the traditional CRRT, the high-throughput membrane with adsorption function and cytokine adsorption column are two representatives of recently emerging novel membrane technologies. Their potential in removing inflammatory factors and other toxins prospects for the treatment of severe COVID-19.
Asunto(s)
Betacoronavirus , Calcinosis/terapia , Infecciones por Coronavirus/terapia , Citocinas , Enfermedades de las Válvulas Cardíacas/terapia , Hipotricosis/terapia , Neumonía Viral/terapia , Terapia de Reemplazo Renal , Enfermedades Cutáneas Genéticas/terapia , COVID-19 , Calcinosis/etiología , Infecciones por Coronavirus/complicaciones , Enfermedad Crítica , Enfermedades de las Válvulas Cardíacas/etiología , Humanos , Hipotricosis/etiología , Pandemias , Neumonía Viral/complicaciones , SARS-CoV-2 , Enfermedades Cutáneas Genéticas/etiologíaAsunto(s)
Vesícula/diagnóstico , Carcinoma Basocelular/diagnóstico , Hipotricosis/diagnóstico , Síndromes Paraneoplásicos/diagnóstico , Neoplasias Cutáneas/diagnóstico , Vesícula/etiología , Vesícula/terapia , Carcinoma Basocelular/complicaciones , Carcinoma Basocelular/terapia , Resultado Fatal , Humanos , Hipotricosis/complicaciones , Hipotricosis/terapia , Masculino , Persona de Mediana Edad , Síndromes Paraneoplásicos/complicaciones , Síndromes Paraneoplásicos/terapia , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/terapiaAsunto(s)
Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/genética , Familia , Hipotricosis/diagnóstico , Hipotricosis/genética , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/genética , Adulto , Carcinoma Basocelular/terapia , Dermoscopía/métodos , Femenino , Humanos , Hipotricosis/terapia , India , Masculino , Persona de Mediana Edad , Linaje , Neoplasias Cutáneas/terapiaRESUMEN
Bazex-Dupré-Christol syndrome is a rare genodermatosis that manifests with the classical triad of basal cell carcinoma, follicular atrophoderma, and hypotrichosis; yet it may be accompanied by milia, ichthyosis, neurological symptoms, and visceral malignancies. Symptom onset is nonsimultaneous, and hence the diagnosis is often made late and the opportunity of counseling and following up is missed. This article aims toward providing a comprehensive review of the clinical perspective of Bazex-Dupré-Christol syndrome, highlighting the major clinical variants to facilitate reaching a prompt diagnosis. In addition, the molecular aspects are discussed. Though the gene responsible for this syndrome is yet nonspecified, it is confirmed to be localized to the long arm of chromosome X.
Asunto(s)
Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/genética , Hipotricosis/diagnóstico , Hipotricosis/genética , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/genética , Carcinoma Basocelular/complicaciones , Carcinoma Basocelular/terapia , Humanos , Hipotricosis/complicaciones , Hipotricosis/terapia , Queratosis/complicaciones , Enfermedades del Sistema Nervioso/complicaciones , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/terapiaAsunto(s)
Carcinoma Basocelular/diagnóstico , Hipotricosis/diagnóstico , Neoplasias Cutáneas/diagnóstico , Anciano de 80 o más Años , Carcinoma Basocelular/etiología , Carcinoma Basocelular/terapia , Humanos , Hipotricosis/etiología , Hipotricosis/terapia , Masculino , Neoplasias Cutáneas/etiología , Neoplasias Cutáneas/terapiaRESUMEN
Acrokeratosis paraneoplastica Bazex (Bazex syndrome) is a rare paraneoplastic skin disease defined by erythematous, violaceous, scaly plaques on the hands and feet and on other acral locations such as nose and ears. Bazex syndrome is linked to a variety of underlying malignancies. Usually the skin lesions develop prior to the diagnosis of an internal malignant neoplasm with spontaneous remission after tumour removal. The objective of this study was to review the so far reported risk factors, diagnostic work-up, prognosis and treatment options for Bazex syndrome in a systematic manner. This systematic review is based on a search in MEDLINE, EMBASE and Cochrane Central Register for English and German articles from 1990 to 2015. Evidence on the diagnosis and treatment of Bazex syndrome is limited predominately to case reports or to small case series. There are no randomized controlled trials. A number of underlying tumour entities, predominately oropharyngeal neoplasms and tumours of the gastroenterological tract, but other malignancies were reported. Treatment modalities including topical and systemic corticosteroids, salicylic acid, topical vitamin D analogues, etretinate and PUVA therapy are often ineffective. Due to the small number of patients and the frequent misdiagnosis of this clinical entity, the aim of this systematic review was to call attention to this rare condition and to help clinicians to diagnose and treat Bazex syndrome effectively. Because of the good prognosis of the skin lesions and the tendency to resolve spontaneously if the underlying tumour is treated early, the differential diagnosis of Bazex syndrome should be taken into consideration when dealing with atypical psoriasiform cutaneous lesions. An early diagnosis may improve the patient's prognosis substantially.
Asunto(s)
Carcinoma Basocelular , Hipotricosis , Neoplasias Cutáneas , Adulto , Anciano , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/epidemiología , Carcinoma Basocelular/patología , Carcinoma Basocelular/terapia , Femenino , Humanos , Hipotricosis/diagnóstico , Hipotricosis/epidemiología , Hipotricosis/patología , Hipotricosis/terapia , Masculino , Persona de Mediana Edad , Pronóstico , Factores de Riesgo , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/terapiaRESUMEN
UNLABELLED: Platelet-rich plasma (PRP) has emerged as a new treatment modality in regenerative plastic surgery, and preliminary evidence suggests that it might have a beneficial role in hair regrowth. Here, we report the results of a randomized, evaluator-blinded, placebo-controlled, half-head group study to compare, with the aid of computerized trichograms, hair regrowth with PRP versus placebo. The safety and clinical efficacy of autologous PRP injections for pattern hair loss were investigated. PRP, prepared from a small volume of blood, was injected on half of the selected patients' scalps with pattern hair loss. The other half was treated with placebo. Three treatments were administered to each patient at 30-day intervals. The endpoints were hair regrowth, hair dystrophy as measured by dermoscopy, burning or itching sensation, and cell proliferation as measured by Ki67 evaluation. Patients were followed for 2 years. Of the 23 patients enrolled, 3 were excluded. At the end of the 3 treatment cycles, the patients presented clinical improvement in the mean number of hairs, with a mean increase of 33.6 hairs in the target area, and a mean increase in total hair density of 45.9 hairs per cm² compared with baseline values. No side effects were noted during treatment. Microscopic evaluation showed the increase of epidermis thickness and of the number of hair follicles 2 weeks after the last PRP treatment compared with baseline value (p < .05). We also observed an increase of Ki67(+) keratinocytes in the epidermis and of hair follicular bulge cells, and a slight increase of small blood vessels around hair follicles in the treated skin compared with baseline (p < .05). Relapse of androgenic alopecia was not evaluated in all patients until 12 months after the last treatment. After 12 months, 4 patients reported progressive hair loss; this was more evident 16 months after the last treatment. Those four patients were re-treated. Our data clearly highlight the positive effects of PRP injections on male pattern hair loss and absence of major side effects. PRP may serve as a safe and effective treatment option against hair loss; more extensive controlled studies are needed. SIGNIFICANCE: Platelet-rich plasma (PRP) has emerged as a new treatment modality in regenerative plastic surgery, and preliminary evidence suggests that it might have a beneficial role in hair regrowth. Here, the results of a randomized, placebo-controlled, half-head group study to compare the hair regrowth with PRP versus placebo are reported. Hair regrowth was quantified by a blinded evaluator using computerized trichograms. The safety and clinical efficacy of autologous PRP injections for pattern hair loss were investigated. Of the 23 patients enrolled, 3 were excluded. At the end of the 3 treatment cycles, the patients presented clinical improvement in the mean number of hairs, with a mean increase of 33.6 hairs in the target area and a mean increase in total hair density of 45.9 hairs per cm² compared with baseline values. No side effects were noted during treatment. The data clearly highlight the positive effects of PRP injections on male pattern hair loss and absence of major side effects. PRP may serve as a safe and effective treatment option against hair loss; more extensive controlled studies are needed.
Asunto(s)
Folículo Piloso/crecimiento & desarrollo , Hipotricosis/terapia , Plasma Rico en Plaquetas , Medicina Regenerativa , Cuero Cabelludo/metabolismo , Adulto , Estudios de Seguimiento , Folículo Piloso/patología , Humanos , Hipotricosis/patología , Masculino , Persona de Mediana Edad , Cuero Cabelludo/patologíaRESUMEN
Bazex-Dupré-Christol syndrome is an X-linked dominantly inherited disorder characterized by congenital hypotrichosis, hypohidrosis, follicular atrophoderma, multiple milia and basal cell carcinomas. We present a girl and her family with this syndrome. Our patient, her 5 month old brother and her 17 year old brother had multiple milia and scalp and eyebrows hypotrichosis. Her 8 year old brother had multiple milia and follicular atrophoderma. Her mother had hypohidrosis and congenital scalp and eyebrows hypotrichosis, as well as a right paranasal lesion suggestive of basal cell carcinoma. We emphasize the importance of precise diagnosis and clinical follow up of these patients due to the possibility of developing basal cell carcinomas.
Asunto(s)
Carcinoma Basocelular , Hipotricosis , Neoplasias Cutáneas , Adolescente , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/terapia , Niño , Preescolar , Femenino , Humanos , Hipotricosis/diagnóstico , Hipotricosis/terapia , Lactante , Masculino , Fenotipo , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/terapiaAsunto(s)
Legrado/efectos adversos , Trastornos de Cefalalgia/etiología , Neuralgia/etiología , Dermatosis del Cuero Cabelludo/terapia , Cuero Cabelludo/patología , Biopsia/efectos adversos , Femenino , Humanos , Hipotricosis/patología , Hipotricosis/terapia , Persona de Mediana Edad , Dermatosis del Cuero Cabelludo/patología , Nervios EspinalesAsunto(s)
Braquidactilia/diagnóstico , Dermatosis Facial/diagnóstico , Hipotricosis/diagnóstico , Miliaria/diagnóstico , Síndromes Orofaciodigitales/diagnóstico , Dermatosis del Cuero Cabelludo/diagnóstico , Braquidactilia/genética , Braquidactilia/terapia , Preescolar , Dermatosis Facial/genética , Dermatosis Facial/terapia , Femenino , Humanos , Hipotricosis/genética , Hipotricosis/terapia , Queratosis , Miliaria/genética , Miliaria/terapia , Síndromes Orofaciodigitales/genética , Síndromes Orofaciodigitales/terapia , Dermatosis del Cuero Cabelludo/genética , Dermatosis del Cuero Cabelludo/terapiaRESUMEN
Prominent eyelashes are generally recognized as enhancing beauty and are often desired by women. Until recently, the options available to augment the prominence of eyelashes were limited to makeup, over-the-counter products, artificial eyelashes, and eyelash transplantation. Originally approved for the treatment of ocular hypertension, the prostamide, bimatoprost, is now approved for the treatment of hypotrichosis of the eyelashes. Bimatoprost ophthalmic solution 0.03%, applied once daily to the skin of the upper eyelid margin using sterile single-use-per-eye applicators, increases eyelash growth, including length, thickness, and darkness. The effectiveness of bimatoprost for eyelash growth has been demonstrated by clinician ratings, digital image analysis, and patient-reported measures of satisfaction. The effects of bimatoprost treatment on eyelash length, thickness, and darkness are believed to result from longer anagen duration, increased hair bulb thickness, and increased melanogenesis, respectively. Dermally applied bimatoprost appears to be associated with a lower incidence of adverse events than administration of the medication as an eyedrop. This more favorable safety and tolerability profile is likely mediated by decreased exposure of ocular tissues to bimatoprost when applied dermally. Taken together, available data suggest that cutaneous application of bimatoprost ophthalmic solution 0.03% safely and effectively enhances upper eyelash growth.
Asunto(s)
Bimatoprost/uso terapéutico , Pestañas/efectos de los fármacos , Hipotricosis/terapia , Resultado del Tratamiento , Fármacos Dermatológicos/efectos adversos , Fármacos Dermatológicos/uso terapéutico , Pestañas/fisiología , Femenino , Humanos , Soluciones Oftálmicas/uso terapéuticoAsunto(s)
Carcinoma Basocelular/patología , Histiocitoma Fibroso Benigno/patología , Hipotricosis/patología , Neoplasias Cutáneas/patología , Enfermedad Aguda , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/terapia , Resultado Fatal , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/terapia , Humanos , Hipotricosis/diagnóstico , Hipotricosis/terapia , Masculino , Persona de Mediana Edad , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/terapiaRESUMEN
Hair loss is a common cause of morbidity for many women. As a key member of the woman's health care team, the obstetrician/gynecologist may be the first person to evaluate the complaint of hair loss. Common types of nonscarring hair loss, including female pattern hair loss and telogen effluvium, may be diagnosed and managed by the obstetrician/gynecologist. A systematic approach to diagnosis and management of these common forms of hair loss is presented.
Asunto(s)
Inhibidores de 5-alfa-Reductasa/uso terapéutico , Alopecia/terapia , Antagonistas de Andrógenos/uso terapéutico , Cabello/trasplante , Fototerapia , Vasodilatadores/uso terapéutico , Alopecia/diagnóstico , Femenino , Finasterida/uso terapéutico , Flutamida/uso terapéutico , Humanos , Hipotricosis/diagnóstico , Hipotricosis/terapia , Minoxidil/uso terapéutico , Espironolactona/uso terapéuticoRESUMEN
This case study reports the clinical, skin biopsy and molecular findings in a 56-year-old Filipino man with the autosomal recessive ectodermal dysplasia disorder, Schöpf-Schulz-Passarge syndrome, the precise nature of which was established only after reading of a similar case in this journal. In addition to the late diagnosis, successful clinical management of his acral hyperkeratosis and ulceration has been difficult, with oral retinoids exacerbating the skin fragility.
Asunto(s)
Anodoncia/diagnóstico , Diagnóstico Tardío , Glándulas Ecrinas/anomalías , Displasia Ectodérmica/diagnóstico , Neoplasias de los Párpados/diagnóstico , Hipotricosis/diagnóstico , Queratodermia Palmoplantar/diagnóstico , Factores de Edad , Anodoncia/etiología , Anodoncia/terapia , Displasia Ectodérmica/etiología , Displasia Ectodérmica/terapia , Neoplasias de los Párpados/etiología , Neoplasias de los Párpados/terapia , Humanos , Hipotricosis/etiología , Hipotricosis/terapia , Queratodermia Palmoplantar/etiología , Queratodermia Palmoplantar/terapia , Masculino , Persona de Mediana EdadAsunto(s)
Carcinoma Basocelular/diagnóstico , Histiocitoma Fibroso Benigno/diagnóstico , Hipotricosis/diagnóstico , Neoplasias Cutáneas/diagnóstico , Biopsia , Carcinoma Basocelular/genética , Carcinoma Basocelular/patología , Carcinoma Basocelular/terapia , Niño , Histiocitoma Fibroso Benigno/genética , Histiocitoma Fibroso Benigno/patología , Histiocitoma Fibroso Benigno/terapia , Humanos , Hipotricosis/genética , Hipotricosis/patología , Hipotricosis/terapia , Masculino , Neoplasias Cutáneas/genética , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/terapiaRESUMEN
Hair and nails are skin appendages that share with other ectodermal tissues a common developmental pathway. Inherited disorders affecting these two structures therefore very often involve other epithelial components and present with multiple anomalies, generating both physical and psychological distress among patients and their families. The present review briefly describes major recent advances in our understanding of hair and nail genodermatoses.
Asunto(s)
Predisposición Genética a la Enfermedad/epidemiología , Enfermedades del Cabello/genética , Enfermedades de la Uña/genética , Displasia Ectodérmica/epidemiología , Displasia Ectodérmica/genética , Displasia Ectodérmica/terapia , Femenino , Regulación del Desarrollo de la Expresión Génica , Enfermedades del Cabello/epidemiología , Enfermedades del Cabello/terapia , Humanos , Hipotricosis/epidemiología , Hipotricosis/genética , Hipotricosis/terapia , Incidencia , Masculino , Enfermedades de la Uña/epidemiología , Enfermedades de la Uña/terapia , Síndrome de la Uña-Rótula/epidemiología , Síndrome de la Uña-Rótula/genética , Síndrome de la Uña-Rótula/terapia , Pronóstico , Medición de Riesgo , Enfermedades Cutáneas Genéticas/diagnóstico , Enfermedades Cutáneas Genéticas/epidemiologíaRESUMEN
Hair loss in children encompasses a wide range of conditions that can be congenital or acquired. A congenital hair abnormality may be an isolated finding in an otherwise healthy child or may exist as a feature of a clinical syndrome. A thorough understanding of basic hair biology and normal hair development enables accurate assessment of the child with hair loss. Knowledge of the normal range and variation observed in children's hair additionally enhances this assessment. Social and cultural factors also influence these norms. The psychological and cosmetic importance of hair is immense in our society. The clinical presentation of pediatric hair disorders ranges from subtle to disfiguring. Management of hair disorders requires a holistic approach to the child and family. Young children usually lack self-awareness and it may be the parent who, projecting their own concerns onto the child, most acutely feels any associated anxiety. In addition, parents of a child with an inherited hair condition often feel guilt, and siblings can develop unsupported fears that they may be affected. Hair loss for the older child can lead to low self-esteem, depression and humiliation. Congenital and hereditary hypotrichosis and hair shaft abnormalities often have no effective treatment. There is a variety of treatment options for alopecia areata and telogen effluvium, but no single treatment is 100% effective. Tinea capitis is an infective condition of the hair that responds readily to the appropriate medical therapy. If no effective treatment for the hair loss exists, cosmetic camouflage with wigs is the best option.