RESUMEN
IgG4-related disease (IgG4-RD) is a newly recognized condition that is characterized by raised levels of serum IgG4, tissue infiltration of IgG4-positive plasma cells and presence of fibrosis. It affects multiple organs, including the pancreas, bile duct, and lacrimal and salivary glands. Skin lesions have rarely been reported, and those that have were described as distributed mainly in the head and neck region. We report a case of IgG4-RD with autoimmune pancreatitis and skin lesions on the trunk and limbs. The skin lesions responded well to oral prednisolone (PSL); however, tapering of PSL to 5 mg/day resulted in recurrence. At present, the skin disease is well controlled at a dose of 7 mg/day. Interestingly, IgG4 levels fluctuated with changes in the PSL dose but did not coincide with the severity of the skin disease, implying that the raised levels of IgG4 did not directly influence the skin symptoms.
Asunto(s)
Enfermedades Autoinmunes/inmunología , Inmunoglobulina G/inmunología , Pancreatitis/inmunología , Enfermedades de la Piel/inmunología , Enfermedades Autoinmunes/tratamiento farmacológico , Glucocorticoides/uso terapéutico , Humanos , Masculino , Persona de Mediana Edad , Pancreatitis/tratamiento farmacológico , Prednisolona/uso terapéutico , Recurrencia , Enfermedades de la Piel/tratamiento farmacológicoRESUMEN
Toxic shock syndrome (TSS) is rare complication after minor surgical procedure. A 22-year-old man was admitted our hospital with spontaneous pneumothorax on the right side. Few days after pleural drainage, he developed a high fever often over 40 degrees C and a rash, most demonstrating a truncal, "sunburn" pattern. Initially, he was diagnosed as right pylothorax, but the clinical course was not typical and antibiotic treatment was not effective. Two weeks later, desquamation of the hands and feet were noted, and methicillin-resistant Staphylococcus aureus (MRSA) isolated from the pleural effusion were identified as TSS toxin (TSST)-1 and enterotoxin-C producing. He was diagnosed as probable TSS, and recovered by steroid therapy. Early awareness and recognition of this disease is necessary for surgeons.
Asunto(s)
Drenaje/efectos adversos , Choque Séptico/etiología , Infecciones Estafilocócicas , Adulto , Humanos , Masculino , Resistencia a la Meticilina , Derrame Pleural/cirugía , Neumotórax/cirugía , Choque Séptico/microbiología , Staphylococcus aureus/efectos de los fármacosRESUMEN
BACKGROUND: There are seven well-known lysosomal storage diseases that produce angiokeratoma corporis diffusum clinically. beta-Mannosidosis (MANB1; OMIM248510), first reported in humans in 1986, is a rare hereditary lysosomal storage disease caused by a deficiency of the enzyme beta-mannosidase. Since then, 13 cases of beta-mannosidase deficiency in ten families have been described. A human beta-mannosidase mutation has been reported only by Alkhayat et al. in 1998. OBJECTIVES: To clarify its pathogenesis we did electron microscopic, biochemical and molecular biological investigations of a Japanese patient with beta-mannosidosis. METHODS: Ultrastructural analyses, enzyme assays, cell culture and mRNA and genomic DNA were sequenced to find mutations in the beta-mannosidase gene. RESULTS: Electron microscopy of skin biopsy specimens from the patient showed cytoplasmic vacuolation of lysosomes in blood and lymph vessels, endothelial cells, fibroblasts, secretory portions of eccrine sweat glands, neural cells and basal keratinocytes in the epidermis. This vacuolation was also observed in cultured keratinocytes and fibroblasts. Assays of seven enzyme activities in plasma and cultured skin fibroblasts showed a marked decrease of beta-mannosidase activity. Sequencing the beta-mannosidase cDNA revealed a four-base (ATAA) insertion between exons 7 and 8, resulting in a frameshift at codon 321 and termination at codon 325. Analysis of the patient's genomic DNA revealed a novel homozygous A(+1)-->G splice site mutation in intron 7. CONCLUSIONS: To our knowledge, this is the first case of beta-mannosidosis reported in Japan and the second report in which a gene mutation is identified. The biological importance of beta-mannose moieties in glycoproteins in basal keratinocytes is suggested.
Asunto(s)
Manosidasas/genética , Mutación Puntual , alfa-Manosidosis/genética , Células Cultivadas , Análisis Mutacional de ADN , ADN Complementario/genética , Femenino , Humanos , Queratosis/genética , Queratosis/patología , Masculino , Manosidasas/sangre , Manosidasas/deficiencia , Microscopía Electrónica , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Piel/ultraestructura , alfa-Manosidosis/patología , beta-ManosidasaRESUMEN
We report a case of erythema elevatum diutinum (EED) in association with malignant B-cell lymphoma. A 62-year-old man developed EED with an unusual distribution involving the palms, soles and nails. Treatment with dapsone was effective for his skin and nails until he developed generalized lymphadenopathy which turned out to be malignant lymphoma. Many haematological diseases, e.g. IgA paraproteinaemia and myeloma, have been reported in association with EED, but not malignant lymphoma. Even though it may just be a coincidence, we would like to add malignant lymphoma as one of the diseases associated with EED because the activity of EED and malignant lymphoma fluctuated in parallel.
Asunto(s)
Eritema/complicaciones , Enfermedades del Pie/complicaciones , Linfoma de Células B/complicaciones , Enfermedades de la Uña/complicaciones , Antiinfecciosos/uso terapéutico , Dapsona/uso terapéutico , Eritema/tratamiento farmacológico , Eritema/patología , Enfermedades del Pie/tratamiento farmacológico , Humanos , Linfoma de Células B/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Enfermedades de la Uña/tratamiento farmacológicoRESUMEN
Nodular localized cutaneous amyloidosis (NLCA) is a disorder characterized by deposition of amyloid derived from immunoglobulin light chains. We used semi-nested polymerase chain reaction (PCR) to analyse archival paraffin-embedded sections from a previous patient and from four additional, previously reported patients with NLCA to determine whether involvement of monoclonal plasma cells is a universal feature of this condition. The semi-nested PCR analysis revealed one or two amplified bands, around 100-120 bp, for all five cases of NLCA, although the yields varied from case to case. These results suggest that clonal expansion of plasma cells in NLCA may occur locally.
Asunto(s)
Amiloidosis/patología , Células Plasmáticas/patología , Enfermedades de la Piel/patología , Adulto , Anciano , Células Clonales/patología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adhesión en Parafina , Reacción en Cadena de la PolimerasaRESUMEN
BACKGROUND: Eosinophilic pustular folliculitis is a distinctive dermatosis that was first described in Japan. Although the histopathologic feature of eosinophilic pustular folliculitis is characterized by follicular infiltrates with numerous eosinophils, its pathophysiology remains unclear. The lesional skin of five patients with eosinophilic pustular folliculitis was examined using several monoclonal antibodies including a variety of anti-leukocyte adhesion molecules: endothelial cell adhesion molecule 1, vascular cell adhesion molecule 1, and intercellular adhesion molecule 1, by means of immunohistochemical techniques. OBSERVATION: Intercellular adhesion molecule 1 expression by keratinocytes was observed on follicular epithelium, but not on epidermis. The migration of eosinophils and lymphocytes, which were intensely positive for antilymphocyte function-associated antigen 1, was limited to follicular epithelium. Endothelial cell adhesion molecule 1 and vascular cell adhesion molecule 1 expression of vascular endothelium was more often observed around hair follicles. There was no reactivity for interleukin 8 in follicular epithelium. CONCLUSIONS: These findings may explain the selective migration of eosinophils and lymphocytes to the hair follicles in eosinophilic pustular folliculitis.
Asunto(s)
Eosinofilia/patología , Foliculitis/patología , Queratinocitos/patología , Enfermedades Cutáneas Vesiculoampollosas/patología , Piel/patología , Adulto , Anticuerpos Monoclonales , Antígenos CD , Biopsia , Relación CD4-CD8 , Adhesión Celular , Moléculas de Adhesión Celular , Selectina E , Eosinofilia/complicaciones , Eosinofilia/fisiopatología , Foliculitis/complicaciones , Foliculitis/fisiopatología , Antígenos HLA-DR , Humanos , Técnicas para Inmunoenzimas , Molécula 1 de Adhesión Intercelular , Antígeno-1 Asociado a Función de Linfocito , Masculino , Enfermedades Cutáneas Vesiculoampollosas/complicaciones , Enfermedades Cutáneas Vesiculoampollosas/fisiopatología , Molécula 1 de Adhesión Celular VascularRESUMEN
Four overlapping cDNA clones were isolated from a lambda gt11 human placenta cDNA library using purified human IgG antibody, from a patient with bullous pemphigoid. The sequence was homologous to human placenta glutathione-S-transferase-pi (GST-pi). Using the placenta clone, epidermal cDNA clones were isolated from a human keratinocyte library. Expression of GST-pi mRNA in human skin, cultured keratinocytes and fibroblasts, and disorders of squamous hyperplasia was demonstrated by Northern blotting and in situ hybridization. Human epidermal and placental cDNA clones hybridized to the same genomic DNA fragments. Hybridization of placental cDNA to interspecific somatic cell hybrids showed retention of chromosome 11, confirming the assignment of GST 3 to the long arm of chromosome 11 by molecular means. Anti-GST-pi antibody did not give a basement membrane zone pattern, although some normal and BP sera contained antibodies to GST-pi. Human skin expresses glutathione-S-transferase-pi, which belongs to an enzyme family important for detoxification and carcinogenesis.
Asunto(s)
Expresión Génica , Glutatión Transferasa/genética , Isoenzimas/genética , Placenta/enzimología , ARN Mensajero/genética , Piel/enzimología , Secuencia de Aminoácidos , Secuencia de Bases , Carcinoma de Células Escamosas/enzimología , Mapeo Cromosómico , Cromosomas Humanos , Clonación Molecular , ADN/genética , Femenino , Biblioteca de Genes , Humanos , Datos de Secuencia Molecular , Hibridación de Ácido Nucleico , Embarazo , Neoplasias Cutáneas/enzimologíaRESUMEN
We have investigated expression of pemphigus vulgaris antigen(s) in cultured human keratinocytes induced by the addition of extracellular calcium. Cycloheximide (10(-4) M) inhibited pemphigus antigen expression and stratification but actinomycin D (2 micrograms/ml) had no effect. Tunicamycin, which inhibits dolichol pyrophosphate-mediated glycosylation of asparaginyl residues specifically, was used to study the role of glycosylation. When calcium switching was carried out in the presence of tunicamycin, human keratinocytes did not stratify, and the expression of pemphigus antigen was partially inhibited and limited to cell-cell contact areas. Analysis of biosynthetically labeled proteins showed that the synthesis of high-molecular-weight proteins was markedly reduced in the tunicamycin-treated cells. A reciprocal blocking test demonstrated that concanavalin A and wheat germ agglutinin receptor share an epitope with pemphigus vulgaris antigen(s). These results suggest that Ca++, newly synthesized protein, and N-asparaginyl glycosylation are required for normal pemphigus antigen expression and epidermal stratification in vitro. Pemphigus vulgaris antigen may have a highly glycosylated, high-molecular-weight protein chain with carbohydrates playing an important role in epidermal cell morphology, adhesion, and stability of cell surface antigens.
Asunto(s)
Antibacterianos/farmacología , Antígenos/inmunología , Cicloheximida/farmacología , Epidermis/inmunología , Queratinas , Pénfigo/inmunología , Calcio/farmacología , Células Cultivadas , Dactinomicina/farmacología , Células Epidérmicas , Epidermis/metabolismo , Glicoproteínas/biosíntesis , Humanos , Lectinas/farmacología , Proteínas de la Membrana/biosíntesis , Tunicamicina/farmacologíaRESUMEN
Biochemical changes taking place in desmosomes during differentiation have been studied. Bovine muzzle epidermis was sliced horizontally into 6 layers, 0.2 mm thick, and desmosomes were isolated from each layer. These were then analyzed by polyacrylamide gel electrophoresis. The electrophoretic patterns of desmosomal proteins from the 6 layers were found to be qualitatively similar to each other, but there was an increase in the ratio of the amount of 150 kD glycoprotein (desmoglein I) relative to 240 and 210 kD proteins (desmoplakins) in the upper layers of the epidermis. This finding was supported by the similar increase observed in electrophoretic patterns of proteins extracted directly from each layer of the epidermis in electrophoretic sample buffer. In order to study the fate of desmosomal components in the stratum corneum, serial skin surface biopsies were stained with antisera against desmosomal components using indirect immunofluorescence techniques. This experiment showed that desmosomal proteins and glycoproteins persist in the stratum corneum but quantitatively decrease in the outer layers. This decrease may play a significant role in desquamation.
Asunto(s)
Proteínas del Citoesqueleto , Desmosomas/metabolismo , Células Epidérmicas , Animales , Bovinos , Diferenciación Celular , Desmogleína 1 , Desmogleínas , Desmoplaquinas , Desmosomas/ultraestructura , Epidermis/ultraestructura , Técnica del Anticuerpo Fluorescente , Glicoproteínas/metabolismo , Glicoproteínas de Membrana/metabolismo , Peso MolecularRESUMEN
The effects of all-trans retinoic acid on human epidermal cell cultures were studied using ultrastructural techniques. Differentiation and stratification were reduced in retinoic acid treated epidermal cells. Treated cells developed a rounded appearance and seemed to contain more granules and vacuoles than usual. Desmosomes were not found in treated cells.