RESUMO
BACKGROUND: Acne vulgaris varies in clinical severity, from minimal comedonal disease to severe hemorrhagic and ulcerative lesions with scarring. While a family history confers a higher risk for developing acne, the correlation between heritability and clinical severity remains unclear. OBJECTIVE: To examine the natural history and heritability of severe acne with scarring in patients undergoing isotretinoin therapy. METHODS: A total of 101 subjects with severe acne with scarring and its variants, including acne conglobata and acne fulminans, were enrolled. All subjects and adult family members underwent an interview regarding their acne, and a corresponding "historical" Investigator's Global Assessment (hIGA) score (0 = clear, 1 = almost clear, 2 = mild, 3 = moderate, 4 = severe, 5 = very severe) was assigned. Study assessors performed an "examination" Investigator's Global Assessment (eIGA) based on the clinical examination of each subject (0 = clear, 1 = almost clear, 2 = mild, 3 = moderate, 4 = severe, 5 = very severe). A detailed family history and pedigree were documented. RESULTS: Most subjects were Caucasian (44.5%) and male (79.2%) who had previously used doxycycline and/or minocycline (86.1%). The mean eIGA and hIGA scores were 2.7 and 4.4, respectively. 37.2% of subjects had one first-degree relative with a history of moderate or severe acne with scarring; of note, of the patients with hemorrhagic disease, 30% had at least one parent with moderate or severe acne. CONCLUSIONS: Severe forms of acne often "cluster" in families, underscoring the heritable nature of acne and the prognostic value of a family history of moderate or severe disease.
Assuntos
Acne Vulgar , Cicatriz , Acne Vulgar/diagnóstico , Acne Vulgar/tratamento farmacológico , Acne Vulgar/genética , Adulto , Cicatriz/patologia , Doxiciclina/uso terapêutico , Feminino , Humanos , Isotretinoína/uso terapêutico , Masculino , Minociclina/efeitos adversos , Resultado do TratamentoRESUMO
Koolen-de Vries syndrome (KdVS), also referred to as the 17q21.31 microdeletion syndrome, is a rare genetic disorder characterized by developmental delay, typical facial dysmorphism, and congenital defects. Associated anomalies include many cutaneous findings. Here, we report a 17-year-old boy with KdVS (17q21.31 microdeletion syndrome) who presented with diffuse freckling and multiple pigmented lesions, found to be most consistent with atypical café-au-lait macules (CALMs) on biopsy. We review the cutaneous findings commonly associated with KdVS (17q21.31 microdeletion syndrome) and propose the addition of diffuse freckling and atypical CALMs, histologically similar to those that may be found in neurofibromatosis type 1, to the cutaneous findings associated with KdVS (17q21.31 microdeletion syndrome).
Assuntos
Anormalidades Múltiplas/diagnóstico , Manchas Café com Leite/diagnóstico , Deficiência Intelectual/diagnóstico , Melanose/diagnóstico , Neurofibromatose 1/diagnóstico , Anormalidades Múltiplas/genética , Adolescente , Manchas Café com Leite/complicações , Manchas Café com Leite/genética , Deleção Cromossômica , Cromossomos Humanos Par 17/genética , Seguimentos , Predisposição Genética para Doença , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Masculino , Melanose/complicações , Neurofibromatose 1/complicações , Doenças Raras , Medição de RiscoRESUMO
Most guidelines on neonatal skin care emphasize issues pertaining to healthy, term infants. Few address the complex task of skin barrier maintenance in preterm, very preterm, and extremely preterm infants. Here, we provide an evidence-based review of the literature on skin care of preterm neonates. Interestingly, the stratum corneum does not fully develop until late in the third trimester, and as such, the barrier function of preterm skin is significantly compromised. Numerous interventions are available to augment the weak skin barrier of neonates. Plastic wraps reduce the incidence of hypothermia while semipermeable and transparent adhesive dressings improve skin quality and decrease the incidence of electrolyte abnormalities. Tub bathing causes less body temperature variability than sponge bathing and can be performed as infrequently as once every four days without increasing bacterial colonization of the skin. Topical emollients, particularly sunflower seed oil, appear to reduce the incidence of skin infections in premature neonates-but only in developing countries. In developed countries, studies indicate that topical petrolatum ointment increases the risk of candidemia and coagulase-negative Staphylococcus infection in the preterm population, perhaps by creating a milieu similar to occlusive dressings. For preterm infants with catheters, povidone-iodine and chlorhexidine are comparably effective at preventing catheter colonization. Further studies are necessary to examine the safety and efficacy of various skin care interventions in premature infants with an emphasis placed on subclassifying the patient population. In the interim, it may be beneficial to develop guidelines based on the current body of evidence.
Assuntos
Doenças do Prematuro/terapia , Higiene da Pele/métodos , Pele/fisiopatologia , Medicina Baseada em Evidências/métodos , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Fenômenos Fisiológicos da PeleRESUMO
Hand-foot-skin reaction is a distinct clinical condition arising in association with the use of multikinase inhibitors, including sorafenib. Because multikinase inhibitors are increasingly being used in children with cancer, recognition of this previously unfamiliar condition is of importance to pediatric dermatologists. We describe the diagnosis and successful treatment of a case of hand-foot-skin reaction in a child taking sorafenib for an unresectable desmoid tumor.
Assuntos
Síndrome Mão-Pé/diagnóstico , Niacinamida/análogos & derivados , Aparelhos Ortopédicos/efeitos adversos , Compostos de Fenilureia/efeitos adversos , Inibidores de Proteínas Quinases/efeitos adversos , Criança , Diagnóstico Diferencial , Fluocinolona Acetonida/uso terapêutico , Glucocorticoides/uso terapêutico , Síndrome Mão-Pé/tratamento farmacológico , Humanos , Masculino , Niacinamida/efeitos adversos , SorafenibeAssuntos
Doenças Autoimunes/patologia , Progressão da Doença , Pênfigo/patologia , Dermatopatias Vesiculobolhosas/imunologia , Dermatopatias Vesiculobolhosas/patologia , Adolescente , Doenças Autoimunes/tratamento farmacológico , Doenças Autoimunes/imunologia , Biópsia por Agulha , Serviço Hospitalar de Emergência , Técnica Direta de Fluorescência para Anticorpo , Humanos , Imunoglobulina G/imunologia , Imuno-Histoquímica , Imunossupressores/administração & dosagem , Masculino , Pênfigo/imunologia , Prurido/diagnóstico , Prurido/etiologia , Doenças Raras , Rituximab/administração & dosagem , Dermatopatias Vesiculobolhosas/tratamento farmacológicoRESUMO
BACKGROUND: Atopic dermatitis (AD) is a chronic, inflammatory skin disease that affects as many as 12.5% of children aged 0-17 years and 3% of the adult population. In the United States, 31.6 million children and adults are estimated to be living with AD. OBJECTIVE: Therapeutic patient education (TPE) has proven its value in the management of chronic diseases for which adherence to therapy is suboptimal. This article explores experts' opinions and treatment practices to determine if TPE is a recommended and effective method for treating AD. METHODS: Forty-two (51%) of 82 Councilors and Associates of the International Eczema Council (IEC), an international group with expertise in AD, responded to an electronic survey on TPE and AD. RESULTS: Most respondents (97.5%) agreed that TPE should play an important role in the management of AD. Many respondents (82.9%) believed that all patients with AD, regardless of disease severity, could benefit from TPE. LIMITATIONS: The International Eczema Council survey lacks specific information on AD severity. CONCLUSIONS: Publications have shown the positive effect of TPE on the course of the disease, the prevention of complications, and the autonomy and quality of patient life. Survey respondents agreed that TPE can improve the quality of patient care and patient satisfaction with care.
RESUMO
Herein we review recent developments in our understanding and treatment of atopic dermatitis. Key insights from the recent literature are summarized, from findings on the pathogenesis of this multifactorial disease to a new and more nuanced understanding of its natural history. Therapeutic advances and new data on comorbidities are also discussed.