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OBJECTIVE: To describe the frequency and clinicopathological concordance of mucocutaneous manifestations in people living with HIV (PLWH) and its correlation with CD4+ T lymphocyte count and HIV viral load. METHODS: Cross-sectional study of patients diagnosed with HIV infection who underwent skin biopsy for histopathological study from 1992 to 2022. Skin diseases were categorized as opportunistic and sexually transmitted infections, inflammatory dermatoses, benign cutaneous neoplasms, and premalignant and malignant cutaneous neoplasms. Clinicopathological concordance was classified as complete, partial or discordant. Frequency of skin diseases are presented by category and according to lymphocyte CD4+ count and HIV viral load. RESULTS: A total of 659 patients were included of whom 88.5% (n = 583) were male. The most frequent diagnostic category was opportunistic or sexually transmitted infections in 34% (n = 224) and the most frequently found condition was Kaposi sarcoma in 17% (n = 112). Clinicopathological concordance was complete in 53.7% (n = 354) of cases, partial in 26.7% (n = 176) and discordant in 19.6% (n = 129). Among the 282 patients with available serological data, 58.9% (n = 166), 23.8% (n = 67) and 17.4% (n = 49) had CD4+ counts below 200, between 200 and 499, and above 500 cells/µl, respectively. CONCLUSIONS: Although there is a high variability in skin conditions which people with HIV may present, there was a high rate of clinicopathological concordance (80.4%). We emphasize the importance of diagnostic skin biopsies due to their diverse morphological presentation. The frequency of skin diseases in PLWH depending on different clinical settings should aid the clinician in reaching an adequate diagnosis in this population.
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Infecções por HIV , Carga Viral , Humanos , Masculino , Estudos Transversais , Feminino , Infecções por HIV/complicações , Infecções por HIV/patologia , Pessoa de Meia-Idade , Adulto , Contagem de Linfócito CD4 , Dermatopatias/patologia , Biópsia , Sarcoma de Kaposi/patologia , Sarcoma de Kaposi/imunologia , Sarcoma de Kaposi/epidemiologia , IdosoRESUMO
The gold standard diagnosis of sporotrichosis is the isolation of Sporothrix sp. in culture media, but this is a time-consuming test that is susceptible to contamination and can be affected by the fungal load. Molecular methods such as nested PCR are gaining more ground in the management of several infections as they are tools for the rapid and accurate identification of microorganisms from pure cultures or directly from biological samples. This study aimed to apply a nested PCR molecular protocol for the rapid detection of Sporothrix spp. directly from clinical samples. Thirteen samples-six from skin biopsies, five from skin exudates, and two from conjunctival secretions-were obtained from patients diagnosed with sporotrichosis due to S. brasiliensis. Calmodulin gene sequencing identified all the isolates as S. brasiliensis. Nested PCR was able to detect all the Sporothrix sensu lato directly from clinical samples as well as the CBS 120339 reference strain. The nested PCR protocol stands out as a diagnostic alternative, as it allows the identification of Sporothrix spp. directly from clinical samples without the need for fungal isolation.
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BACKGROUND: Brief erythematous-papular skin rashes suggest the diagnosis of urticaria; However, it may be another type of dermatitis, and complementary examinations must be carried out to establish its diagnosis. CASE REPORT: 53-year-old female patient, diagnosed in 2016 with diffuse large B cell lymphoma, in complete remission. Since 2010, he has had episodes of erythematous-papular lesions lasting 24-36 hours. He received antihistamines, corticosteroids and omalizumab without clinical improvement. The ANA determination was positive (1/320), nuclear mitotic pattern. The skin biopsy was compatible with dermatitis herpetiformis. The study of celiac and locus antibodies showed positivity for HLA-DQ2 and DQ2.5 in heterozygosity. The diagnosis of dermatitis herpetiformis was established. Treatment consisted of a gluten-free diet and prescription of dapsone, with satisfactory results. CONCLUSION: It is important to establish the differential diagnosis of patients with chronic urticaria who do not respond to the reference treatment, in addition to carrying out a thorough clinical examination and physical examination before starting treatment and relying on a multidisciplinary team to establish an accurate diagnosis and treatment. appropriate. Due to the side effects of dapsone, subsequent follow-up of patients is essential.
ANTECEDENTES: Los exantemas cutáneos eritemato-papulares de breve duración sugieren el diagnóstico clínico de urticaria; no obstante, puede tratarse de otro tipo de dermatitis, y para establecer el diagnóstico deben llevarse a cabo exploraciones complementarias. REPORTE DE CASO: Paciente femenina de 53 años, diagnosticada en 2016 con linfoma difuso de células B grandes, en remisión completa. Desde el 2010 manifestó episodios de lesiones eritemato-papulosas, de 24-36 horas de duración. Recibió antihistamínicos, corticoides y omalizumab sin mejoría clínica. La determinación de ANA resultó positiva (1/320), con patrón mitótico nuclear. La biopsia cutánea fue compatible con dermatitis herpetiforme. El estudio de anticuerpos de celiaquía y locus mostró positividad para HLA-DQ2 y DQ2.5 con heterocigosis. Se estableció el diagnosticó de dermatitis herpetiforme. El tratamiento consistió en dieta exenta de gluten y prescripción de dapsona, con resultados satisfactorios. CONCLUSIÓN: Es importante establecer el diagnóstico diferencial de pacientes con urticaria crónica que no responden al tratamiento de referencia, además de efectuar el examen clínico y la exploración física exhaustivos antes de iniciar el protocolo, y apoyarse de un equipo multidisciplinario para establecer el diagnóstico certero y tratamiento adecuado. Debido a los efectos secundarios de la dapsona, es imprescindible el seguimiento posterior de los pacientes.
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Urticária Crônica , Humanos , Pessoa de Meia-Idade , Feminino , Urticária Crônica/etiologia , Urticária Crônica/tratamento farmacológico , Urticária Crônica/diagnóstico , Dermatite Herpetiforme/diagnóstico , Dermatite Herpetiforme/etiologia , Dermatite Herpetiforme/complicações , Prurido/etiologia , Diagnóstico Diferencial , Dapsona/uso terapêuticoRESUMO
BACKGROUND: The yield of skin biopsies in the evaluation of intravascular lymphoma (IVL) is largely unknown in Western patients. Most data supporting this test come from Asian populations, in which both prevalence and disease presentation seem to differ. OBJECTIVE: To determine the yield and diagnostic properties of skin biopsy in the evaluation of IVL. METHODS: We reviewed skin biopsy pathology reports of 50 patients being evaluated for IVL to calculate the diagnostic yield of this test. An additional 6 patients, who underwent skin biopsies after the diagnosis of IVL was made by other means, were included to calculate the sensitivity and specificity of our index test. RESULTS: Skin biopsy samples were positive for 5 of the 50 patients being investigated for IVL. Sensitivity was 50% and specificity was 100%. LIMITATIONS: Only pathology reports containing IVL as an indication for the biopsy were retrieved. This might have excluded patients in whom the disease was considered but was not deemed likely enough to be listed as the indication for the test, inflating our estimative of skin biopsy yield. CONCLUSION: A relatively high diagnostic yield was found in the evaluation of IVL among patients with a diverse presentation in a Western hospital.
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Linfoma Difuso de Grandes Células B , Neoplasias Vasculares , Biópsia , Humanos , Estudos Retrospectivos , Pele , Neoplasias Vasculares/diagnósticoRESUMO
BACKGROUND: A relationship between the EGFR signaling pathway expression in skin and the use of targeted cancer therapies has been previously demonstrated. Consistent evidence to support the use of skin biopsies as a surrogate for therapeutic evaluation is needed. The purpose of this study was to establish the relationship between the expression of EGFR signaling pathway markers in skin samples from EGFR-mutated metastatic lung adenocarcinoma patients and their response to tyrosine kinase inhibitors. METHODS: This was a prospective single blind analysis of 35 skin biopsies from 31 patients with confirmed advanced EGFR-mutated lung adenocarcinoma. Immunohistochemistry was performed: EGFR, p27, Ki67, STAT3 and MAPK, as well as H&E histopathological analysis, in order to determine their treatment response to tyrosine kinase inhibitors. RESULTS: EGFR, Ki67, STAT3, stratum corneum thickness (number of layers and millimeters) from skin samples had a statistical correlation with an adequate treatment response (P = 0.025, 0.015, 0.017, 0.041, 0.039 respectively). EGFR, p27 and number of layers of the stratum corneum were related to a better median progression-free survival (P = 0.025 and P = 0.030). CONCLUSIONS: The relationship between EGFR pathway inhibition in the skin and oncological outcomes obtained explains the parallel biological effects of tyrosine kinase inhibitors. We hope that our work incites future research to help validate and assess the use of these markers as potential prognostic and predictive factors.
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Adenocarcinoma de Pulmão/tratamento farmacológico , Biomarcadores/metabolismo , Neoplasias Pulmonares/tratamento farmacológico , Inibidores de Proteínas Quinases/uso terapêutico , Pele/patologia , Adenocarcinoma de Pulmão/patologia , Feminino , Humanos , Neoplasias Pulmonares/patologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Inibidores de Proteínas Quinases/farmacologiaRESUMO
BACKGROUND: Cutaneous leishmaniasis (CL) is generally diagnosed by molecular methods, including PCR, using biopsy samples, skin scrapings and clinical exudates. In this study, we assessed the PCR performance for diagnosis of CL using skin of biopsy samples vs PCR of skin lesion exudate samples on filter paper and compared the diagnostic concordance of PCR using both sampling methods. METHODS: We assessed the PCR performance using 80 skin biopsy samples and 80 filter paper samples containing exudates from skin lesions obtained from 74 patients with clinical suspicion of CL in Cusco, Peru. RESULTS: : PCR using skin biopsy samples had superior diagnostic accuracy compared with filter paper PCR (62.5% [50/80] vs 38.7% [31/80], respectively; pË0.005) and the diagnostic concordance between both sampling methods was 'moderate' (kappa coefficient=0.50, 95% CI 0.98 to 1.0). CONCLUSIONS: PCR using biopsy samples remains the standard for diagnosis of CL.
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Biópsia , Leishmania/genética , Leishmania/isolamento & purificação , Leishmaniose Cutânea/diagnóstico , Reação em Cadeia da Polimerase/métodos , Úlcera Cutânea/parasitologia , DNA de Protozoário , Exsudatos e Transudatos , Humanos , Leishmania/classificação , Peru , Sensibilidade e Especificidade , Pele/patologiaRESUMO
BACKGROUND/OBJECTIVES: Silvery hair syndrome is a rare, autosomal-recessive entity characterized by silvery gray hair, eyebrows, and eyelashes and may be associated or not with immunologic or neurologic alterations. Two main types have been recognized: Chediak-Higashi syndrome and Griscelli syndrome. Hair shaft examination under light microscopy has been a useful tool to differentiate Chediak-Higashi syndrome from Griscelli syndrome, although distribution of melanin varies according to hair color related to ethnicity. The objective was to compare the pattern of melanin in the skin and with the pattern of melanin distribution in the hair shaft. METHODS: Sixteen patients with silvery hair syndrome were selected (Chediak-Higashi syndrome 5, Griscelli syndrome 11). The distribution of melanin granules in skin and hair shafts was compared and correlated with clinical diagnoses. RESULTS: Chediak-Higashi syndrome was characterized by small granules of melanin uniformly distributed throughout the thickness of the epidermis. Griscelli syndrome was characterized by an irregular pigment distribution in the epidermal basal layer with large and dense granules alternating with areas lacking melanin pigment. In two cases, study of the hair was not conclusive, but the skin showed the characteristic pattern of Griscelli syndrome. CONCLUSION: Skin biopsy is a useful tool in differentiating Chediak-Higashi syndrome from Griscelli syndrome and as a complementary study in cases in which hair shaft pigment distribution does not support the diagnosis, especially in patients with fair hair. The distribution of melanin granules in the skin correlates with that observed in the hair shaft, allowing Chediak-Higashi syndrome to be differentiated from Griscelli syndrome, at any age.
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Síndrome de Chediak-Higashi/diagnóstico , Cabelo/patologia , Perda Auditiva Neurossensorial/diagnóstico , Síndromes de Imunodeficiência/diagnóstico , Linfo-Histiocitose Hemofagocítica/diagnóstico , Piebaldismo/diagnóstico , Transtornos da Pigmentação/diagnóstico , Adolescente , Biópsia , Síndrome de Chediak-Higashi/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Perda Auditiva Neurossensorial/patologia , Humanos , Síndromes de Imunodeficiência/patologia , Lactente , Recém-Nascido , Linfo-Histiocitose Hemofagocítica/patologia , Masculino , Piebaldismo/patologia , Transtornos da Pigmentação/patologia , Doenças da Imunodeficiência Primária , Estudos Retrospectivos , Pele/patologiaRESUMO
Fibroblasts are cells widely used in cell culture, both for transient primary cell culture or permanent as transformed cell lines. Lately, fibroblasts become cell sources for use in disease modeling after cell reprogramming because it is easily accessible in the body. Fibroblasts in patients will maintain all genetic background during reprogramming into induced pluripotent stem cells. In spite of their large use, fibroblasts are obtained after an invasive procedure, a superficial punch skin biopsy, collected under patient's local anesthesia. Taking into consideration the minimum patient's discomfort during and after the biopsy procedure, as well as the aesthetics aspect, it is essential to reflect on the best site of the body for the biopsy procedure combined with the success of getting robust fibroblast cultures in the lab. For this purpose, we compared the efficiency of four biopsy sites of the body (skin from eyelid, back of the ear, abdominal cesarean scar and groin). Cell proliferation assays and viability after cryopreservation were measured. Our results revealed that scar tissue provided fibroblasts with higher proliferative rates. Also, fibroblasts from scar tissues presented a higher viability after the thawing process.
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ABSTRACT Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder which affects the cerebral vasculature due to mutations in the NOTCH 3 gene. The diagnosis may be established through genetic testing for detection of these mutations and/or by skin biopsy. We report a case of the disorder in a female patient, who presented recurrent transient ischemic attacks that evolved to progressive subcortical dementia. Neuroimaging disclosed extensive leukoaraiosis and lacunar infarcts. The genetic analysis for NOTCH 3 was confirmatory. The ultrastructural examination of the skin biopsy sample, initially negative, confirmed the presence of characteristic changes (presence of granular osmiophilic material inclusions [GOM]), after the analysis of new sections of the same specimen. The present findings indicate that negative findings on ultrastructural examinations of biopsy should not exclude the diagnosis of the disease and that further analyses of the sample may be necessary to detect the presence of GOM.
ABSTRACT Arteriopatia Cerebral Autossômica Dominante com Infartos Subcorticais e Leucoencefalopatia (CADASIL) é uma desordem hereditária que acomete a vasculatura cerebral devido a mutações no gene do NOTCH 3. O diagnóstico pode ser estabelecido através de testes genéticos para a detecção das mutações e/ou de biópsia de pele. É relatado um caso da desordem em paciente feminino, que apresentou ataques isquêmicos transitórios recorrentes, evoluindo para um quadro progressivo de demência subcortical. A neuroimagem mostrou extensa leucoaraiose e infartos lacunares. A análise genética para NOTCH 3 foi confirmatória. O exame ultraestrutural de biópsia de pele, inicialmente negativa, confirmou a presença de alterações características (presença de material granular osmiofílico [GOM]), após a análise de novos cortes do mesmo material. Os presentes achados indicam que achados negativos de exames ultraestruturais de biópsia não deveriam excluir o diagnóstico da doença e que análise adicional da amostra pode ser necessária para detectar a presença de GOM.
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Humanos , Biópsia , CADASIL , Receptor Notch3RESUMO
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary disorder which affects the cerebral vasculature due to mutations in the NOTCH 3 gene. The diagnosis may be established through genetic testing for detection of these mutations and/or by skin biopsy. We report a case of the disorder in a female patient, who presented recurrent transient ischemic attacks that evolved to progressive subcortical dementia. Neuroimaging disclosed extensive leukoaraiosis and lacunar infarcts. The genetic analysis for NOTCH 3 was confirmatory. The ultrastructural examination of the skin biopsy sample, initially negative, confirmed the presence of characteristic changes (presence of granular osmiophilic material inclusions [GOM]), after the analysis of new sections of the same specimen. The present findings indicate that negative findings on ultrastructural examinations of biopsy should not exclude the diagnosis of the disease and that further analyses of the sample may be necessary to detect the presence of GOM.
Arteriopatia Cerebral Autossômica Dominante com Infartos Subcorticais e Leucoencefalopatia (CADASIL) é uma desordem hereditária que acomete a vasculatura cerebral devido a mutações no gene do NOTCH 3. O diagnóstico pode ser estabelecido através de testes genéticos para a detecção das mutações e/ou de biópsia de pele. É relatado um caso da desordem em paciente feminino, que apresentou ataques isquêmicos transitórios recorrentes, evoluindo para um quadro progressivo de demência subcortical. A neuroimagem mostrou extensa leucoaraiose e infartos lacunares. A análise genética para NOTCH 3 foi confirmatória. O exame ultraestrutural de biópsia de pele, inicialmente negativa, confirmou a presença de alterações características (presença de material granular osmiofílico [GOM]), após a análise de novos cortes do mesmo material. Os presentes achados indicam que achados negativos de exames ultraestruturais de biópsia não deveriam excluir o diagnóstico da doença e que análise adicional da amostra pode ser necessária para detectar a presença de GOM.
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Los avances en histotecnología han permitido a lo largo de los años el desarrollo de diferentes técnicas diagnósticas en la práctica de la patología. Entre estas técnicas se encuentra la biopsia por congelación, sin embargo, en el ámbito clínico es común el desconocimiento de esta herramienta diagnóstica. Presentamos una breve revisión acerca de sus limitaciones, sus posibles indicaciones y los casos en los que la biopsia por congelación brinda información importante al clínico para orientar una modificación terapéutica. Al final se hace énfasis sobre las consideraciones a tener en cuenta sobre la biopsia por congelación de piel y las condiciones clínicas en las cuales resulta útil.
The advances in histotechnology over the years have enabled the development of different diagnostic techniques in the pathology practice. These techniques include frozen biopsy; however, in the clinical field use of this diagnostic tool generally unknown. A brief review of their limitations are presented, along with their possible indications, as well as cases in which frozen biopsy provides important information to the clinician to guide therapeutic changes. Finally, emphasis is placed on the considerations to take into account in frozen skin biopsy, and the clinical conditions in which it is useful. © 2013 Instituto Nacional de Cancerología. Published by Elsevier España, S.L.U. All rights reserved.
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Humanos , Pele , Biópsia , Métodos , Congelamento , Terapêutica , Sistema Único de Saúde , DermatologiaRESUMO
O Instituto Lauro de Souza Lima (ILSL) é um centro de referência dermatológica e a dermatomiosite é uma doença frequente em seu ambulatório. A dermatomiosite é identificada por suas lesões de pele específicas e pela presença de miopatia inflamatória. Sua incidência é baixa. A confirmação diagnóstica é realizada através da análise da apresentação dermatológica, dosagem sérica de enzimas musculares, eletroneuromiografia e biópsias de pele e músculo. Objetivo: analisar a incidência, características clínicas e procedimentos diagnósticos realizados bem como o tempo para o diagnóstico, levando em conta a sua efetividade. Método: estudo retrospectivo dos prontuários de pacientes diagnosticados com dermatomiosite de janeiro de 2000 a abril de 2013 no ILSL. Conclusão: aconselha-se que se dê prioridade ao atendimento de pacientes com os sintomas neurológicos mais sugestivos, tais como: fraqueza muscular e disfagia associadas a lesões de pele, tendo em vista a possibilidade de dermatomiosite.
As the Instituto Lauro de Souza Lima is a Dermatology Reference Center, dermatomyositis is prevalent in its outpatient clinic. Dermatomyositis is identified by its specific skin lesions and inflammatory myopathy and has low incidence. Diagnostic confirmation is made by the dermatological presentation, serum muscle enzymes, electroneuromyography and skin and muscle biopsies. Objective: to analyze the incidence, clinical features, diagnostic procedures and time to diagnosis of dermatomyositis patients, according to the algorithm rationality and effectiveness Methods: it is a retrospective surveillance of Instituto Lauro de Souza Lima (ILSL) patients from January 2000 until April 2013. Conclusion: in a dermatology outpatient department it is advisable to prioritize dermatological cases with neurological symptoms suggestive of dysphagia and muscular weakness with skin lesions, referring for neurological examination due to the possibility of derrmatomyositis.
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Humanos , Masculino , Feminino , Criança , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Biópsia/instrumentação , Dermatomiosite/diagnóstico , Miosite/diagnósticoRESUMO
La polineuropatía diabética es la más común de las complicaciones microvasculares de la diabetes mellitus, siendo causa importante de morbilidad y mortalidad asociada a la enfermedad. Evaluar el efecto del ácido tióctico en los cambios clínicos, neuroconductivos e histopatológicos en la neuropatía diabética sensitivo motora distal. Estudio prospectivo, longitudinal, de intervención terapéutica, en pacientes que acudieron a la consulta externa y unidad cardiometabólica del Servicio de Medicina Interna del Hospital Militar Dr. Carlos Arvelo, a quien se les realizó historia clínica con evaluación del score sensitivo-motor, pruebas de neuroconducción y biopsia de piel, con evaluación a la semana n° 1, 4,12, 18 y 24. 30 pacientes diabéticos con criterio clínico de neuropatía diabética sensitivo motora distal. Se observó mejoría de las parestesias a partir de la semana 12 (p <0.05) de la administración del ácido tióctico a dosis de 600mg/día por vía oral. En la neuroconducción hubo aumento de la velocidad de conducción durante el post tratamiento (p<0,05). Se realizaron 12 biopsias de piel: 2 fueron positivas (16,7%) previo tratamiento y 10 negativas (83,3%) con anticuerpo PGP 9,5. En la semana 24 post tratamiento 7 positivas (58,3%) y 5 negativas (41,7%) (p<0,05). Se demostró que el tratamiento con ácido tióctico es efectivo en mejorar los síntomas y la neuroconducción en los pacientes diabéticos con neuropatía sensitivo motora distal.
Diabetic neuropathy is the most common microvascular complication of diabetes mellitus, and a major cause of morbidity and mortality. To evaluate the effect of thioctic acid in the clinical, histopathological neuroconductive and sensory motor diabetic distal neuropathy. Prospective, longitudinal, therapeutic intervention, in patients attending the outpatient and cardiometabolic consultation Internal Medicine; an assessment of sentitivo-motor score was performed and blood chemistry was measured as well as HbA1c. Neuroconduction and skin biopsy with assessment at weeks 1, 4.12, 18 and 24 were done. 30 diabetic patients with clinical criteria of distal motor sensory neuropathy were included. The clinical symptom was paresthesia, which was present from week 12 and showed improvement (p <0.05) at weeks 18 and 24 (p<0.05). Neuroconduction was measured by increased conduction velocity post treatment (p <0.05). Biopsieswere performed in 12 patients; two were positive (16.7%) after treatment and 10 negative (83.3%) for PGP 9.5 antibody. At week 24 of treatment, 7 were positive (58.3%) and 5 negative (41.7%) (p<0.05). We demonstrated effectiveness of thioctic acid after week 12 of treatment.
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Humanos , Masculino , Feminino , Ácido Tióctico/uso terapêutico , Complicações do Diabetes/diagnóstico , Condução Nervosa/fisiologia , Neuropatias Diabéticas/diagnóstico , Neuropatias Diabéticas/terapia , Medicina InternaRESUMO
A biópsia de pele é a remoção de uma parte da pele com o objetivo de exame complementar, laboratorial utilizando um microscópio. As biópsias de pele são feitas para diagnosticar várias doenças.
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Humanos , Dermatopatias , Biópsia/métodos , BiópsiaRESUMO
A doença de Anderson-Fabry é uma desordem de acúmulo lisossomial causada por deficiência da enzima alfa-galactosidase A (@-Gal A), relacionada com mutação recessiva no cromossomo X, resultando em acúmulo de glicolípides nas células endoteliais, nas células musculares lisas, nas células periteliais vasculares, e, variavelmente, nos neurônios e células ganglionares. O quadro clínico inicia-se na adolescência, com dores intensas e recorrentes nas extremidades, seguidas por angioceratomas, distrofia corneana, insuficiência renal e comprometimento cardíaco. Pacientes com dosagem de ?-Gal A extremamente baixa tendem a evoluir para óbito ao redor dos 40 anos de idade devido à insuficiência renal, infarto do miocárdio ou acidente vascular cerebral. Comprometimento isolado ou do coração ou do rim está relacionado com dosagem ao redor de 1 a 10% da @-Gal A. Descrevemos um paciente de 63 anos, masculino, apresentando, exclusivamente, acroparestesia dolorosa crônica e intensa, com dosagem não detectável de @-Gal A e comprometimento exclusivo de nervos periféricos, principalmente de fibras finas. Biópsia de pele mostrou ausência de nervos intraepidérmicos. A Doença de Fabry com neuropatia exclusiva é uma variante ainda não descrita.
Anderson-Fabry disease is a lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase (@-Gal A) related to recessive mutation carried on the X chromosome, resulting in glicolipid accumulation in the cytoplasm of endothelial cells, smooth muscle cells, and perithelial cells of blood vessels, and variably in neurons and ganglionic cells. Clinical onset of the disease occurs during adolescence with recurrent episodes of severe pain in the extremities, followed by angiokeratomas, cornea dystrophy, renal insufficiency and cardiac involvement. Patients that have extremely low @-Gal A activity are likely to evolve to death at about 40 years of age due to renal failure, heart attack or brain stroke. We present a 63 year-old man, showing exclusively chronic and severe painful acroparesthesia, with undetectable @-Gal A and exclusive involvement of peripheral nerves, mainly thin fibers. Skin biopsy showed no intraepidermal nerve fibers. Fabry disease manifested with exclusive peripheral neuropathy is a variant not yet described.
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Humanos , Masculino , Pessoa de Meia-Idade , Biópsia , Doença de Fabry/diagnóstico , Doenças do Sistema Nervoso Periférico/diagnósticoRESUMO
Este articulo revisa las indicaciones y tecnicas para practicar bipsias. Se hace especial enfasis en la biopsia de piel y en la necesidad que tiene el medico general de utilizar este recurso para un mejor manejo de sus pacientes
This article reviews the indications for biopsies and techniques employed to perform them. Special emphasis is placed on the adequate use of this diagnostic tool by the general practitioner for a more appropriate management of patients with skin lesions