RESUMO
In this narrative medicine essay, a pediatrician retells her story of infertility, finding solace among others who experienced it, to demonstrate to those yet to experience it that they are not alone.
RESUMO
Neurocutaneous melanocytosis (NCM) is a disorder characterized by multiple or large congenital nevi and excessive proliferation of melanocytes in the leptomeninges and brain parenchyma. The majority of NCM is a result of somatic mosaicism due to a single postzygotic mutation in codon 61 of NRAS. Patients with NCM are at high risk of developing leptomeningeal melanoma. The prognosis for leptomeningeal melanoma is poor with no known effective treatment options. We describe the clinical features, treatment, and outcome of 4 children with NCM and leptomeningeal melanoma and discuss the latest molecular findings and treatment options for this rare condition.
Assuntos
GTP Fosfo-Hidrolases/genética , Melanoma/patologia , Melanose/complicações , Proteínas de Membrana/genética , Neoplasias Meníngeas/patologia , Síndromes Neurocutâneas/complicações , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Melanoma/tratamento farmacológico , Melanoma/etiologia , Melanose/genética , Melanose/patologia , Neoplasias Meníngeas/tratamento farmacológico , Neoplasias Meníngeas/etiologia , Mutação , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/patologia , Prognóstico , Estudos Retrospectivos , Adulto JovemAssuntos
Imageamento por Ressonância Magnética , Mycobacterium tuberculosis/isolamento & purificação , Pescoço/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Tuberculose dos Linfonodos/diagnóstico por imagem , Humanos , Lactente , Masculino , Pescoço/patologia , Radiografia Torácica , Tuberculose dos Linfonodos/microbiologia , Tuberculose dos Linfonodos/patologiaRESUMO
A pseudoxanthoma elasticum (PXE)-like phenotype develops in a subset of patients with inherited hemoglobinopathies. Although PXE tissue changes are thought to develop in the absence of ABCC6 mutations in patients with beta-thalassemia, ABCC6 mutations have not been well evaluated among sickle cell disease patients with PXE-like disease. To our knowledge, we describe the first patient with sickle cell disease, PXE skin findings, and two confirmed pathogenic ABCC6 mutations. This case suggests that ABCC6 testing is warranted for sickle cell disease patients with the PXE-like phenotype and that the pathogenesis of PXE manifestations in beta-thalassemia and sickle cell disease may differ.
Assuntos
Anemia Falciforme/complicações , Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética , Pseudoxantoma Elástico/diagnóstico , Anemia Falciforme/genética , Criança , Feminino , Humanos , Mutação , Fenótipo , Pseudoxantoma Elástico/complicações , Pseudoxantoma Elástico/genética , Pele/patologiaRESUMO
Kaposi sarcoma (KS) is a multifocal angioproliferativetumor of endothelial origin. Despite nearly identicalclinical and histopathologic presentations, KS isclassified into four distinct varieties: classic/sporadic,AIDS-associated, African/endemic, and iatrogenic. Allsubtypes are invariably linked to human herpesvirus-8(HHV-8) and show a male predilection. Classic Kaposisarcoma is exceedingly rare in the Asian populationand its incidence varies by region and ethnic grouppredominance. A study in the Xinjiang region of Chinafound that only 1% of classic KS cases occurred inpatients belonging to the Han Chinese ethnic group,which formulates 84% of the Taiwanese population.Therefore, classic KS is extremely rare in Taiwan, withvery few reports describing the manifestations ofdisease in this population. We report a case of animmunocompetent 68-year-old HIV-negative HanChinese man born and raised in Taiwan with classicKaposi sarcoma on his trunk and extremities.
Assuntos
Imunocompetência , Neoplasias Primárias Múltiplas/diagnóstico , Sarcoma de Kaposi/diagnóstico , Neoplasias Cutâneas/diagnóstico , Idoso , Dorso , Pé , Soronegatividade para HIV , Humanos , Masculino , Neoplasias Primárias Múltiplas/patologia , Sarcoma de Kaposi/patologia , Neoplasias Cutâneas/patologiaRESUMO
Fixed drug eruption (FDE) is defined as sharply demarcated erythematous patches or plaques that occur secondary to systemic exposure to a causative medication. Eruptions are deemed "fixed" because upon repeated exposure they recur at previously affected sites. Generalized bullous fixed drug eruption (GBFDE) is a rare FDE variant occurring in patients with a previous history of FDE. Given the extensive cutaneous involvement and the frequent mucosal ulcerations associated with GBFDE, it is challenging to discern these lesions from Steven-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN). The presence of significantly elevated lesional and serum granulysin in SJS/TEN is an important discriminating factor because granulysin levels remain significantly lower in GBFDE. The implementation of an immunochromatographic test for rapid detection of elevated granulysin levels could therefore facilitate the early diagnosis of SJS/TEN. We report a case of GBFDE to elucidate the characteristic differences in clinical presentation, histopathology, and immunohistochemistry that can facilitate diagnosis.
