RESUMO
Nodule formation can be a potentially disfiguring adverse event of soft tissue fillers. Limited treatment consensus exists regarding the optimal approach for addressing recurrent and persistent nodules. Here we describe two challenging cases of nodules that developed following injection with Restylane and Juvéderm Voluma. We review suspected pathophysiology and discuss our treatment approach. J Drugs Dermatol. 2018;17(5):580-581.
Assuntos
Técnicas Cosméticas/efeitos adversos , Preenchedores Dérmicos/efeitos adversos , Face , Ácido Hialurônico/análogos & derivados , Envelhecimento da Pele , Dermatopatias/diagnóstico , Idoso , Diagnóstico Diferencial , Feminino , Humanos , Ácido Hialurônico/efeitos adversos , Injeções Subcutâneas , Dermatopatias/induzido quimicamenteAssuntos
Currículo , Melanoma , Humanos , Programas de Rastreamento , Melanoma/diagnóstico , Projetos PilotoRESUMO
Pure hair and nail ectodermal dysplasia (PHNED) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. We describe a homozygous novel missense mutation in the HOXC13 gene that resulted in autosomal recessive PHNED in a Hispanic child. The mutation c.812A>G (p.Gln271Arg) is located within the DNA-binding domain of the HOXC13 gene, cosegregates within the family, and is predicted to be maximally damaging. This is the first reported case of a missense HOXC13 mutation resulting in PHNED and the first reported case of PHNED identified in a North American family. Our findings illustrate the critical role of HOXC13 in human hair and nail development.
Assuntos
Displasia Ectodérmica/genética , Proteínas de Homeodomínio/genética , Mutação de Sentido Incorreto/genética , Displasia Ectodérmica/patologia , Humanos , Lactente , Masculino , LinhagemAssuntos
Procedimentos Cirúrgicos Dermatológicos/métodos , Recidiva Local de Neoplasia/epidemiologia , Estadiamento de Neoplasias , Neoplasias Cutâneas/cirurgia , Adulto , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/cirurgia , Neoplasia Residual , Estudos Prospectivos , Reoperação , Neoplasias Cutâneas/diagnóstico , Estados Unidos/epidemiologiaRESUMO
A 48 year-old woman with a history of fibroids presents with asymptomatic skin lesions. Biopsy reveals cutaneous leiomyomas and subsequent genetic evaluation confirms the diagnosis of hereditary leiomyomatosis and renal cell cancer. In this report, we review the typical presentation of the syndrome as well as recommendations for surveillance.
Assuntos
Neoplasias Renais/diagnóstico , Leiomioma/genética , Leiomiomatose/diagnóstico , Sarcoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias Uterinas/diagnóstico , Feminino , Humanos , Neoplasias Renais/genética , Leiomioma/diagnóstico por imagem , Leiomioma/patologia , Leiomiomatose/genética , Pessoa de Meia-Idade , Síndromes Neoplásicas Hereditárias , Sarcoma/genética , Neoplasias Cutâneas/genética , Ultrassonografia , Neoplasias Uterinas/genéticaAssuntos
Carcinoma Basocelular/cirurgia , Obstrução Nasal/etiologia , Neoplasias Nasais/cirurgia , Rinoplastia , Retalhos Cirúrgicos , Técnicas de Sutura , Suturas , Idoso , Carcinoma Basocelular/patologia , Humanos , Masculino , Cirurgia de Mohs/métodos , Neoplasias Nasais/patologia , Cuidados Pós-Operatórios , Qualidade de Vida , Respiração , Rinoplastia/efeitos adversos , Rinoplastia/métodos , Técnicas de Sutura/efeitos adversos , Resultado do TratamentoAssuntos
Deformidades Adquiridas Nasais/cirurgia , Neoplasias Nasais/cirurgia , Rinoplastia/métodos , Neoplasias Cutâneas/cirurgia , Carcinoma de Células Escamosas de Cabeça e Pescoço/cirurgia , Ferida Cirúrgica/cirurgia , Idoso , Humanos , Masculino , Cirurgia de Mohs/efeitos adversos , Deformidades Adquiridas Nasais/etiologia , Retalhos Cirúrgicos , Ferida Cirúrgica/etiologiaRESUMO
Insulin is secreted from the islets of Langerhans in coordinated pulses. These pulses are thought to lead to plasma insulin oscillations, which are putatively more effective in lowering blood glucose than continuous levels of insulin. Gap-junction coupling of ß-cells by connexin-36 coordinates intracellular free calcium oscillations and pulsatile insulin release in isolated islets, however a role in vivo has not been shown. We test whether loss of gap-junction coupling disrupts plasma insulin oscillations and whether this impacts glucose tolerance. We characterized the connexin-36 knockout (Cx36(-/-)) mouse phenotype and performed hyperglycemic clamps with rapid sampling of insulin in Cx36(-/-) and control mice. Our results show that Cx36(-/-) mice are glucose intolerant, despite normal plasma insulin levels and insulin sensitivity. However, Cx36(-/-) mice exhibit reduced insulin pulse amplitudes and a reduction in first-phase insulin secretion. These changes are similarly found in isolated Cx36(-/-) islets. We conclude that Cx36 gap junctions regulate the in vivo dynamics of insulin secretion, which in turn is important for glucose homeostasis. Coordinated pulsatility of individual islets enhances the first-phase elevation and second-phase pulses of insulin. Because these dynamics are disrupted in the early stages of type 2 diabetes, dysregulation of gap-junction coupling could be an important factor in the development of this disease.