RESUMEN
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.
RESUMEN
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.
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GTP Fosfohidrolasas/genética , Melanoma/patología , Melanosis/complicaciones , Proteínas de la Membrana/genética , Neoplasias Meníngeas/patología , Síndromes Neurocutáneos/complicaciones , Adolescente , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Melanoma/tratamiento farmacológico , Melanoma/etiología , Melanosis/genética , Melanosis/patología , Neoplasias Meníngeas/tratamiento farmacológico , Neoplasias Meníngeas/etiología , Mutación , Síndromes Neurocutáneos/genética , Síndromes Neurocutáneos/patología , Pronóstico , Estudios Retrospectivos , Adulto JovenAsunto(s)
Imagen por Resonancia Magnética , Mycobacterium tuberculosis/aislamiento & purificación , Cuello/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Tuberculosis Ganglionar/diagnóstico por imagen , Humanos , Lactante , Masculino , Cuello/patología , Radiografía Torácica , Tuberculosis Ganglionar/microbiología , Tuberculosis Ganglionar/patologíaRESUMEN
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.
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Anemia de Células Falciformes/complicaciones , Proteínas Asociadas a Resistencia a Múltiples Medicamentos/genética , Seudoxantoma Elástico/diagnóstico , Anemia de Células Falciformes/genética , Niño , Femenino , Humanos , Mutación , Fenotipo , Seudoxantoma Elástico/complicaciones , Seudoxantoma Elástico/genética , Piel/patologíaRESUMEN
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.
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Inmunocompetencia , Neoplasias Primarias Múltiples/diagnóstico , Sarcoma de Kaposi/diagnóstico , Neoplasias Cutáneas/diagnóstico , Anciano , Dorso , Pie , Seronegatividad para VIH , Humanos , Masculino , Neoplasias Primarias Múltiples/patología , Sarcoma de Kaposi/patología , Neoplasias Cutáneas/patologíaRESUMEN
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.