RESUMO
Subcutaneous panniculitis-like T-cell lymphoma (SPTL) is an extremely rare, indolent skin malignancy that can be difficult to distinguish from autoimmune disease-associated panniculitides. Here, we describe a 12-year-old boy who was diagnosed at age 7 years with dermatomyositis with classical manifestations, including poikiloderma, Gottron's sign, and symmetric muscle weakness. Recently, the boy presented multiple subcutaneous nodules and fever. Histopathological examination and immunohistochemical staining revealed coexistence of SPTL. To our knowledge, this is the first case of dermatomyositis accompanied with SPTL. This case alert clinical physicians of the possibility of SPTL should be considered when a patient with dermatomyositis has new lesions presenting as nodules and unknown fever.
RESUMO
Nevus spilus (NS) is composed of multiple types that characterized by a congenital hyperpigmented patch within variable even superimposed lesions originating from melanocytic lineage cells. The molecular mechanism and classification of diverse NS phenotypes remain unclear. Five children with a phenotype of NS were genotyped by the panel based on next-generation sequencing in this study. DNA from biopsies, blood samples and hair follicle were sequenced to confirm the presence of a somatic mutation. Sequencing results indicated somatic mutation in the gene of NRAS or HRAS in all biopsies from the nevi, and the pathogenic variants were not detected in the samples of blood and hair follicle. This study successfully identified the somatic mutation in five unrelated children with diverse NS phenotypes. Moreover, it provided typical images and differential diagnoses between variable NS phenotypes in clinical, pathological, and genetic features, and first proposed a clinical diagnostic algorithm that contributed to simplifying and optimizing the diagnoses and management of these overlapped diseases.
Assuntos
Nevo Pigmentado , Nevo , Neoplasias Cutâneas , Criança , Humanos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Nevo Pigmentado/diagnóstico , Nevo Pigmentado/genética , Nevo Pigmentado/congênito , Nevo/diagnóstico , Nevo/genética , Fenótipo , AlgoritmosAssuntos
Granuloma Anular/diagnóstico , Hidroxicloroquina/administração & dosagem , Tuberculose Latente/diagnóstico , Pele/patologia , Gordura Subcutânea/patologia , Biópsia , Pré-Escolar , Esquema de Medicação , ELISPOT , Granuloma Anular/tratamento farmacológico , Granuloma Anular/imunologia , Granuloma Anular/patologia , Humanos , Testes de Liberação de Interferon-gama , Tuberculose Latente/complicações , Tuberculose Latente/tratamento farmacológico , Tuberculose Latente/imunologia , Masculino , Mycobacterium tuberculosis/imunologia , Mycobacterium tuberculosis/isolamento & purificação , Pele/imunologia , Gordura Subcutânea/imunologia , Resultado do TratamentoRESUMO
Herein, we report a unique case of generalized eruptive keratoacanthoma (GEKA) in a 47-year-old Chinese man presenting with extensive pruritic papules and nodules accompanied by oral lesions. He also had a 2-year history of vitiligo and long-term experience of working outdoors. Biopsies were consistent with keratoacanthoma . Interestingly, prurigo nodularis (PN) was found in histopathology at 1-year follow up. To our knowledge, this is the first report describing a case of GEKA with oral lesions complicated with vitiligo and developed with PN.
Assuntos
Ceratoacantoma/complicações , Prurigo/complicações , Vitiligo/etiologia , Antialérgicos/uso terapêutico , Biópsia , Humanos , Ceratoacantoma/diagnóstico , Ceratoacantoma/tratamento farmacológico , Ceratoacantoma/patologia , Ceratolíticos/uso terapêutico , Masculino , Pessoa de Meia-Idade , Mucosa Bucal/patologia , Extratos Vegetais/uso terapêutico , Prurigo/diagnóstico , Prurigo/tratamento farmacológico , Prurigo/patologia , Pele/patologia , Resultado do Tratamento , Tripterygium/química , Vitiligo/diagnóstico , Vitiligo/patologiaRESUMO
Mesenchymal stem cells (MSCs) transplantation is a promising therapeutic strategy for type 1 diabetes (T1D). However, little is known on whether MSC transplantation can benefit T1D patients with ketoacidosis and its potential actions. Here, we show that infusion with bone marrow MSCs preserves ß-cell function in some T1D patients with ketoacidosis by decreasing exogenous insulin requirement and increasing plasma C-peptide levels up to 1-2 years. MSC transplantation increased plasma and islet insulin contents in non-obese diabetic (NOD) mice with severe diabetes. In comparison with severe diabetes controls, MSC infusion reduced insulitis, decreased pancreatic TNF-α, and increased IL-10 and TGF-ß1 expression in NOD mice. MSC infusion increased the percentages of splenic Tregs and levels of plasma IL-4, IL-10 and TGF-ß1, but reduced the percentages of splenic CD8+ T and levels of plasma IFN-γ, TNF-α and IL-17A in NOD mice. Finally, infused MSCs predominantly accumulated in pancreatic tissues at 28 days post infusion. The effects of MSCs on preserving ß-cell function and modulating inflammation tended to be dose-dependent and multiple doses of MSCs held longer effects in NOD mice. Hence, MSC transplantation preserved ß-cell function in T1D patients and NOD mice with severe diabetes by enhancing Treg responses.