RESUMEN
In P63-related ectodermal dysplasias (ED), the clinical characteristics focus on extra-cutaneous manifestations. The dermatological phenotype remains incompletely characterized. We report the dermatological features of 22 patients carrying a TP63 mutation. Erosions, erythroderma and pigmentary anomalies are characteristics of P63-related ED. Our data suggest that patients might be classified into two major P63-related disorders: AEC and EEC. RHS and ADULT represent mild AEC and EEC forms, respectively.
Asunto(s)
Displasia Ectodérmica/genética , Factores de Transcripción/deficiencia , Proteínas Supresoras de Tumor/deficiencia , Adolescente , Adulto , Niño , Preescolar , Labio Leporino/genética , Fisura del Paladar/genética , Dermatitis Exfoliativa/genética , Dermatoglifia , Displasia Ectodérmica/diagnóstico , Anomalías del Ojo/genética , Enfermedades de los Párpados/congénito , Enfermedades de los Párpados/genética , Femenino , Cabello/anomalías , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , Pezones/anomalías , Trastornos de la Pigmentación/genética , Policondritis Recurrente/genética , Evaluación de Síntomas , Anomalías Dentarias/genética , Factores de Transcripción/genética , Proteínas Supresoras de Tumor/genética , Anomalías Urogenitales/genética , Adulto JovenRESUMEN
Pediculosis is the most frequent and contagious ectoparasitic infestation in human, particularly in children from 3 to 8 years of age. Epidemics are observed from time to time, in schools or in adults in prisons. Even though benign, these infections remain unpleasant and can have an important psyco-social impact. Since a few years, caregivers have to face increasing problems while treating lice: appearance of insecticide resistances, lindane's withdrawal from the market and the marketing of new products which are not always well evaluated. This article offers first recalls about pediculoses and then a sum up of the different available treatments with an evidence based management strategy.
Asunto(s)
Infestaciones por Piojos/terapia , Animales , Resistencia a Medicamentos , Humanos , Higiene , Insecticidas/uso terapéutico , Infestaciones por Piojos/diagnóstico , Infestaciones por Piojos/transmisión , Malatión/uso terapéutico , Aceites , Permetrina/uso terapéutico , FitoterapiaRESUMEN
Mucocutaneous adverse events are commonly observed under immune checkpoint inhibitors (ICIs) therapy. Here, we report the case of a 43-year-old male patient with a stage IIIC melanoma disease who developed hidradenitis suppurativa (HS) three months after the beginning of an anti-PD-1 (nivolumab) adjuvant therapy. The patient had no comorbidities other than obesity and severe acne during adolescence. After an unsuccessful course of lymecycline while he was still treated with nivolumab, he gradually improved under zinc gluconate therapy and, more importantly, after nivolumab cessation. HS is a recurrent follicular inflammatory disease in the apocrine gland-bearing areas of the body often associated with obesity, metabolic syndrome, tobacco smoking, inflammatory bowel diseases, psoriasis, and arthritis. In our patient, the latency period between drug initiation and onset of HS symptoms and the improvement after immunotherapy discontinuation, argued strongly in favor of an anti-PD-1-induced HS. Anti-PD-1 therapies often trigger T cells-mediated adverse events that mimic Th17-mediated inflammatory and neutrophilic diseases. We suggest that HS, as other pustular skin reactions and ICIs-induced neutrophilic colitis, can be part of the anti-PD-1 mucocutaneous adverse event spectrum.