Subject(s)
Mastocytosis, Systemic , Mastocytosis , Humans , Mast Cells/metabolism , Mast Cells/pathology , Brazil , Tertiary Care Centers , Mastocytosis/diagnosis , Mastocytosis/metabolism , Mastocytosis/pathology , Biopsy , Algorithms , Mastocytosis, Systemic/diagnosis , Proto-Oncogene Proteins c-kitABSTRACT
BACKGROUND: The pathogenesis of infantile hemangioma (IH) is not fully understood. It has been suggested that angiogenic factors increase in the proliferative stage, decreasing subsequently in the regression phase. OBJECTIVES: To evaluate vascular endothelial growth factor (VEGF) and matrix metalloproteinase 9 (MMP-9) levels, according to infantile hemangioma (IH) growth stages and size, and to compare these levels in patients with IH and control subjects. METHODS: This cross-sectional study included 68 patients with IH and 25 control subjects. Plasma and urinary MMP-9 and VEGF levels were evaluated during proliferative and regression phases. These levels were correlated with tumor size measured by ultrasonography. Nonparametric tests were performed. RESULTS: Among 68 patients with IH, 55 (81%) were female. Age ranged from 1 to 40 months (median 7.0 months). There was no difference in plasma and urinary levels of VEGF and MMP-9 between patients and control subjects. There were no significant differences in these levels between IH patients younger or older than 12 months of age, as a cutoff between proliferative and involution phases. No significant correlation was observed between tumor size and levels of the markers (R < 0.20 and P > 0.05 for all comparisons). CONCLUSION: In our large sample, levels of VEGF and MMP-9 did not reflect the characteristic increased angiogenesis in patients with IH when compared to healthy subjects. In addition, these markers were not increased in the proliferative stage of the IH and did not correlate with tumor size.
Subject(s)
Hemangioma , Matrix Metalloproteinase 9 , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Vascular Endothelial Growth Factor A , Vascular Endothelial Growth FactorsABSTRACT
INTRODUCTION: Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No patient with generalized morphea (GM) associated with harlequin ichthyosis was described. CASE REPORT: A 4-years and 6-months girl, diagnosed with harlequin ichthyosis based on diffuse cutaneous thickening, scaling, erythema, ectropion and eclabium since the first hours of birth was described. She was treated with acitretin (1.0mg/kg/day) and emollient cream. At 3 years and 9 months, she developed muscle contractures with pain on motion and limitation in elbows and knees, and diffuse sclerodermic plaques on the abdomen, back, suprapubic area and lower limbs. Skin biopsy showed rectified epidermis and mild hyperorthokeratosis, reticular dermis with perivascular and periadnexal infiltrates of lymphocytes and mononuclear cells, and reticular dermis and sweat gland sclerosis surrounded by a dense collagen tissue, compatible with scleroderma. The patient fulfilled the GM subtype criteria. Methotrexate and prednisone were introduced. At 4 years and 3 months, new scleroderma lesions occurred and azathioprine was associated with previous therapy, with no apparent changes after two months. DISCUSSION: A case of harlequin ichthyosis associated with a GM was reported. The treatment of these two conditions is a challenge and requires a multidisciplinary team.
Subject(s)
Ichthyosis, Lamellar/complications , Scleroderma, Localized/complications , Acitretin , Child, Preschool , Ectropion , Female , Humans , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/drug therapy , Scleroderma, Localized/diagnosis , Scleroderma, Localized/drug therapy , SkinABSTRACT
Resumo Introdução Ictiose arlequim é uma doença cutânea congênita grave, autossômica e rara, caracterizada por ressecamento excessivo da pele e hiperqueratose. A associação de ictiose com esclerose sistêmica foi descrita em apenas três crianças. Ainda não foi descrito nenhum paciente com morfeia generalizada (MG) associada à ictiose arlequim. Relato de caso: Menina de quatro anos e seis meses de idade com diagnóstico de ictiose arlequim baseado em espessamento cutâneo difuso, com fissuras, descamação, eritema e sangramento da lesão desde as primeiras horas de vida. A paciente foi tratada com acitretina (1,0 mg/kg/dia) e creme emoliente. Aos três anos e nove meses, desenvolveu contraturas musculares com dor à movimentação e limitação nos cotovelos e joelhos e placas esclerodérmicas difusas no abdômen, nas costas, na região suprapúbica e nas extremidades inferiores. A biópsia de pele mostrou epiderme retificada e hiperqueratose leve, derme reticular com linfócitos, infiltrado mononuclear perivascular e perianexial e esclerose da derme reticular e glândula sudorípara rodeada por um tecido colágeno denso, compatível com esclerodermia. A paciente preencheu os critérios para o subtipo MG. Metotrexato e prednisona foram introduzidos. Aos quatro anos e três meses, apresentou novas lesões esclerodérmicas, associando-se azatioprina à terapêutica anterior, sem resposta após dois meses. Discussão: Um caso de ictiose arlequim associada à MG foi descrito. O tratamento dessas duas condições é um desafio e requer uma equipe multidisciplinar.
Abstract Introduction: Harlequin ichthyosis (HI) is a severe and rare hereditary congenital skin disorder characterized by excessive dryness, ectropion and eclabion. The association of ichthyosis with systemic sclerosis has been described in only three children. No patient with generalized morphea (GM) associated with harlequin ichthyosis was described. Case report: A 4-years and 6-months girl, diagnosed with harlequin ichthyosis based on diffuse cutaneous thickening, scaling, erythema, ectropion and eclabium since the first hours of birth was described. She was treated with acitretin (1.0 mg/kg/day) and emollient cream. At 3 years and 9 months, she developed muscle contractures with pain on motion and limitation in elbows and knees, and diffuse sclerodermic plaques on the abdomen, back, suprapubic area and lower limbs. Skin biopsy showed rectified epidermis and mild hyperorthokeratosis, reticular dermis with perivascular and periadnexal infiltrates of lymphocytes and mononuclear cells, and reticular dermis and sweat gland sclerosis surrounded by a dense collagen tissue, compatible with scleroderma. The patient fulfilled the GM subtype criteria. Methotrexate and prednisone were introduced. At 4 years and 3 months, new scleroderma lesions occurred and azathioprine was associated with previous therapy, with no apparent changes after two months. Discussion: A case of harlequin ichthyosis associated with a GM was reported. The treatment of these two conditions is a challenge and requires a multidisciplinary team.
Subject(s)
Humans , Female , Child, Preschool , Scleroderma, Localized/complications , Ichthyosis, Lamellar/complications , Scleroderma, Localized/diagnosis , Scleroderma, Localized/drug therapy , Skin , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/drug therapy , Acitretin , EctropionABSTRACT
Immunofluorescence is a valuable auxiliary diagnostic tool for autoimmune bullous diseases and inflammatory disorders, since their clinical and histopathologic findings may be inconclusive. It is a feasible laboratory method that requires experienced technicians and detects in situ and circulating immune deposits that may be involved in the pathogenesis of such skin diseases.
Subject(s)
Basement Membrane/chemistry , Fluorescent Antibody Technique, Direct , Fluorescent Antibody Technique, Indirect , Skin Diseases/diagnosis , Biopsy , Complement C3/analysis , Humans , Immunoglobulins/analysis , Lichen Planus/diagnosis , Lichen Planus/pathology , Lupus Erythematosus, Cutaneous/diagnosis , Lupus Erythematosus, Cutaneous/pathology , Pemphigus/diagnosis , Pemphigus/pathology , Porphyrias/diagnosis , Porphyrias/pathology , Skin Diseases/pathology , Vasculitis/diagnosis , Vasculitis/pathologyABSTRACT
A imunofluorescência é um valioso instrumento auxiliar no diagnóstico das dermatoses bolhosas autoimunes e desordens inflamatórias, uma vez que seus achados clínicos e histopatológicos podem não ser determinantes. Consiste em um método laboratorial factível, que requer profissionais técnicos experientes, e detecta imunocomplexos in situ e/ou circulantes, que podem estar envolvidos na patogênese de tais enfermidades cutâneas.
Immunofluorescence is a valuable auxiliary diagnostic tool for autoimmune bullous diseases and inflammatory disorders, since their clinical and histopathologic findings may be inconclusive. It is a feasible laboratory method that requires experienced technicians and detects in situ and circulating immune deposits that may be involved in the pathogenesis of such skin diseases.
Subject(s)
Humans , Basement Membrane/chemistry , Fluorescent Antibody Technique, Direct , Fluorescent Antibody Technique, Indirect , Skin Diseases/diagnosis , Biopsy , /analysis , Immunoglobulins/analysis , Lichen Planus/diagnosis , Lichen Planus/pathology , Lupus Erythematosus, Cutaneous/diagnosis , Lupus Erythematosus, Cutaneous/pathology , Pemphigus/diagnosis , Pemphigus/pathology , Porphyrias/diagnosis , Porphyrias/pathology , Skin Diseases/pathology , Vasculitis/diagnosis , Vasculitis/pathologyABSTRACT
PURPOSE: To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD: Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS: Under light microscopy, hairs from Chédiak-Higashi patients presented evenly distributed, regular melanin granules, larger than those seen in normal hairs. Under polarized light microscopy, shafts exhibited a bright and polychromatic refringence appearance. In contrast, hair from Griscelli-Prunieras patients, under light microscopy, exhibited bigger and irregular melanin granules, distributed mainly near the medulla. Under polarized light microscopy, shafts appeared monotonously white. CONCLUSION: Light microscopic examination of hair shafts of patients with Chédiak-Higashi or Griscelli-Prunieras syndrome reveals subtle differences that are useful in identifying both disorders, but not in distinguishing between them. We provide evidence that polarized light microscopy of hair shafts, an approach that has not been previously described, aids in differentiating between these syndromes. We propose hair study by polarized light microscopy as a helpful complementary diagnostic method for differential diagnosis between CHS and GPS, especially when the more sophisticated molecular studies are not available.
Subject(s)
Chediak-Higashi Syndrome/diagnosis , Common Variable Immunodeficiency/diagnosis , Hair/diagnostic imaging , Piebaldism/diagnosis , Adult , Chediak-Higashi Syndrome/pathology , Child , Child, Preschool , Diagnosis, Differential , Female , Humans , Male , Microscopy, Polarization , Piebaldism/pathology , Syndrome , UltrasonographyABSTRACT
OBJETIVO: Estudar e comparar o aspecto dos cabelos de portadores das síndromes de Chédiak-Higashi e Griscelli-Prunieras, tanto na microscopia óptica convencional quanto com luz polarizada. MÉTODO: Cabelos de dois doentes portadores da síndrome de Chédiak-Higashi e de dois portadores da síndrome de Griscelli-Prunieras foram obtidos e estudados tanto à microscopia convencional quanto com luz polarizada. RESULTADOS: Na microscopia óptica convencional, os cabelos dos doentes portadores da síndrome de Chédiak-Higashi mostraram grânulos de melanina regulares, com distribuição homogênea e de maior tamanho em comparação aos presentes no cabelo normal. À microscopia de luz polarizada notou-se aspecto brilhante e refringência policromática. Diferentemente, os cabelos dos doentes portadores da síndrome de Griscelli-Prunieras apresentaram à microscopia convencional, grânulos de melanina irregulares e maiores do que os presentes no cabelo normal e os presentes nos cabelos dos doentes portadores da síndrome de Chédiak-Higashi, preferencialmente próximos à medula das hastes pilosas. À microscopia de luz polarizada apresentaram aspecto monotonamente esbranquiçado. CONCLUSÃO: O exame dos cabelos pela microscopia convencional nas síndromes de Chédiak-Higashi e Griscelli-Prunieras revela diferenças sutis no reconhecimento dessas doenças. No presente trabalho apresentamos evidência de que o exame das hastes pilosas com microscopia de luz polarizada - não descrito previamente - contribui na diferenciação de ambas doenças sugerindo que esse seja um método diagnóstico útil na distinção entre as síndromes de Chédiak-Higashi e Griscelli Prunieras, especialmente nos casos em que estudos moleculares mais sofisticados não estejam disponíveis.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adult , Chediak-Higashi Syndrome/diagnosis , Common Variable Immunodeficiency/diagnosis , Hair/pathology , Piebaldism/diagnosis , Diagnosis, Differential , Microscopy, Polarization , SyndromeABSTRACT
UNLABELLED: Pemphigus are autoimmune intraepidermal blistering diseases in which immunoglobulin G (IgG) autoantibodies are directed against desmosomal glycoproteins. The aim of this study was to determine the IgG subclass profile of endemic pemphigus foliaceus (fogo selvagem) and pemphigus vulgaris utilizing indirect immunofluorescence. PATIENTS AND METHODS: Twenty-five patients with pemphigus vulgaris, 25 with endemic pemphigus foliaceus (fogo selvagem), and 25 healthy controls were analyzed by indirect immunofluorescence for circulating autoantibodies (total IgG and its subclasses). RESULTS: Our data revealed a significant correlation (P <.05) of disease activity and autoantibody levels in both forms of pemphigus, i.e., negative titers related to clinical remission, whereas positive results related to active disease. Immunoglobulin G subclass analysis in fogo selvagem demonstrated that in patients in remission, 56% showed positive immunoglobulin G4; in active disease, immunoglobulin G4 was the predominant subclass (100% positive in all cases). The IgG subclass profile in pemphigus vulgaris showed that in patients in remission, only 10% were positive for immunoglobulin G4; in active disease, positivity for immunoglobulin G4 was present in 78% to 88% of the cases. CONCLUSION: Subclass characterization of immunoglobulin G autoantibodies is a useful tool for pemphigus follow-up, since immunoglobulin G4 (IgG4) is the subclass that is closely related to recognition of pathogenic epitopes, and consequently with disease activity. Careful monitoring should be performed for fogo selvagem in clinical remission with a homogeneous IgG4 response, since this may indicate more frequent relapses.
Subject(s)
Autoantibodies/blood , Immunoglobulin G/blood , Pemphigus/immunology , Adult , Aged , Aged, 80 and over , Case-Control Studies , Desmogleins/immunology , Female , Fluorescent Antibody Technique, Indirect , Follow-Up Studies , Humans , Male , Middle AgedABSTRACT
Pênfigos são enfermidades auto-imunes bolhosas intraepidérmicas, onde auto-anticorpos IgG se dirigem contra glicoproteínas desmossomais. O objetivo deste estudo foi determinar o perfil de subclasses de imunoglubulina G no pênfigo foliáceo endêmico (fogo selvagem) e no pênfigo vulgar através da imunofluorescência indireta. MÉTODOS: Vinte e cinco doentes de pênfigo foliáceo endêmico (fogo selvagem), 25 de pênfigo vulgar e 25 controles sadios foram analisados através da imunofluorescência indireta, com respeito aos auto-anticorpos circulantes (imunoglobulina G total e subclasses). RESULTADOS: Nossos dados mostram uma correlação estatisticamente significativa (p<0.05) entre atividade da doença e títulos de auto-anticorpos circulantes em ambas as formas de pênfigo, ou seja, títulos negativos relacionaram-se com remissão clínica, enquanto resultados positivos correlacionaram-se com doença em atividade. A análise de subclasses de IgG mostrou que 56% dos doentes de fogo selvagem em remissão apresentaram apenas IgG4 positiva; na doença ativa, IgG4 foi a subclasse predominante, sendo positiva em 100% dos casos. Nos doentes de pênfigo vulgar, apenas 10% dos doentes em remissão apresentaram positividade exclusiva para IgG4; na doença em atividade, IgG4 esteve presente em 78-83,3% dos casos. CONCLUSÕES: A caracterização de subclasses de imunoglobulina G consiste em um instrumento de grande valia no seguimento de doentes de pênfigo, uma vez que a IgG4 é a subclasse intimamente relacionada com o reconhecimento de epítopos patogênicos, e consequentemente com atividade da enfermidade. No fogo selvagem em remissão com uma resposta homogênea 'as custas de IgG4, uma monitoração cuidadosa deve ser realizada, uma vez que isto pode significar uma maior chance de reativação.
Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Autoantibodies/blood , Immunoglobulin G/blood , Pemphigus/immunology , Case-Control Studies , Desmogleins/immunology , Fluorescent Antibody Technique, Indirect , Follow-Up StudiesABSTRACT
Os autores apresentam um caso de paracoccidioidomicose tegumentar de longa evoluçäo que após numerosas recaídas desenvolveu resistência inicialmente aos derivados sulfamídicos, anfotericina B e finalmente ao Ketoconazole. Enfatizam como sendo o primeiro caso de paracoccidioidomicose resistente à anfotericina B e ao ketoconazole registrado na literatura
