Asunto(s)
Síndrome del Nevo Basocelular/complicaciones , Receptores de Superficie Celular/genética , Neoplasias Cutáneas/complicaciones , Vitíligo/complicaciones , Adulto , Síndrome del Nevo Basocelular/genética , Análisis Mutacional de ADN/métodos , Salud de la Familia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Receptores Patched , Neoplasias Cutáneas/genéticaRESUMEN
A 33-year-old man (Case 1) developed scaling and erythema on the extensor side of his extremities, head, and back, 3 years before his first visit to our hospital. The lesions spread out to form several plaques and became persistent (Fig. 1a). Serum antistreptolysin O (ASO) was within the normal range and a pharyngeal culture showed normal flora. Histologic findings were compatible with psoriasis vulgaris (Fig. 1b). Topical steroid therapy was effective; however, scaling and erythema persisted. The 8-year-old daughter (Case 2) of Case 1 had suffered severe tonsillitis 2 months prior to the skin eruptions. Numerous rain drop-like scaly papules appeared on her legs and generalized rapidly (Fig. 2a). Her tonsils were swollen and reddish. Streptococcus pyogenes was detected by pharyngeal smear. The ASO value was at a high level. Histologic examination showed slightly elongated rete ridges, focal lack of the granular layer, parakeratosis, mild spongiosis, and exostosis of neutrophils (Fig. 2b). She was diagnosed with acute guttate psoriasis. Administration of oral antimicrobials reduced the ASO value and led to remission of the disease. After 1 month of antimicrobial treatment, the erythematous papules disappeared. The human leukocyte antigen (HLA) typing of the father was HLA-A24, A31, B7, B39, and Cw7, and that of the daughter was HLA-A24, A31, B39, and Cw7. Both possessed HLA-A24, B39, and Cw7. The HLA typing of other family members was also studied. The mother had HLA-A11, A24, B39, B62, Cw4, and Cw7, and her son had HLA-A11, A24, B7, B62, Cw4, and Cw7. The result of HLA typing is shown in Table 1. Lymphocyte stimulating test was performed using heat-killed S. pyogenes which were boiled at 70 degrees C for 10 min and sonicated. The stimulation index was twofold higher in the daughter than in the father (Fig. 3).
Asunto(s)
Psoriasis/patología , Piel/patología , Enfermedad Aguda , Adulto , Niño , Salud de la Familia , Femenino , Prueba de Histocompatibilidad , Humanos , Masculino , Psoriasis/genéticaRESUMEN
A 28-year-old Japanese woman with hereditary complement (C9) deficiency and dermatomyositis is reported. She had a 3-year history of facial erythema and a 1-month history of progressive muscle weakness. Clinical and laboratory findings were suggestive of dermatomyositis; muscle biopsy confirmed an inflammatory myopathy. An unexpected finding, however, was the low titre of serum haemolytic complement (CH50). Treatment with prednisolone resulted in marked clinical improvement but did not affect the CH50 titre. Further investigation revealed a selective and total absence of the ninth complement component (C9), with direct DNA sequence analysis revealing a non-sense mutation at Arg95 of the C9 gene. This case demonstrates that the muscle lesions of dermatomyositis can occur in the presence of a complement defect that would prevent the formation of the C5b-9 membrane attack complex.
Asunto(s)
Complemento C9/deficiencia , Dermatomiositis/inmunología , Adulto , Codón sin Sentido , Complemento C9/genética , Dermatomiositis/genética , Dermatomiositis/patología , Eritema/inmunología , Dermatosis Facial/inmunología , Femenino , HumanosAsunto(s)
Manchas Café con Leche/complicaciones , Hamartoma/complicaciones , Enfermedades del Iris/complicaciones , Neurofibromatosis 1/complicaciones , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Manchas Café con Leche/genética , Manchas Café con Leche/patología , Niño , Preescolar , Femenino , Hamartoma/genética , Hamartoma/patología , Humanos , Lactante , Enfermedades del Iris/genética , Enfermedades del Iris/patología , Masculino , Persona de Mediana Edad , Neurofibromatosis 1/genética , Neurofibromatosis 1/patologíaAsunto(s)
División Celular/efectos de los fármacos , Inhibinas/farmacología , Neuroblastoma/tratamiento farmacológico , Neurofibromatosis 1/tratamiento farmacológico , Neoplasias Cutáneas/tratamiento farmacológico , Activinas , Adulto , Relación Dosis-Respuesta a Droga , Humanos , Masculino , Neuroblastoma/patología , Neurofibromatosis 1/patología , Neoplasias Cutáneas/patología , Células Tumorales CultivadasRESUMEN
A 72-year-old woman with a burn scar on the calves of both legs developed an ulcer on her right heel, surrounded by multiple verrucous nodules and plaques. She had experienced similar verrucous lesions on both legs in the burn scar areas. Although the clinical diagnosis was Marjolin's ulcer, histologically the ulcer region showed thick fibrous tissue without any atypical epithelial cells. The verrucous lesions were consistent with the diagnosis of eccrine syringofibroadenoma (ESFA). Moreover, an ESFA-like growth pattern was seen in the elevated margin of the ulcer. Our findings suggest that these lesions developed as a result of reactive eccrine duct hyperplasia followed by skin tissue remodelling.
Asunto(s)
Adenoma de las Glándulas Sudoríparas/etiología , Quemaduras/complicaciones , Cicatriz/etiología , Úlcera de la Pierna/etiología , Neoplasias de las Glándulas Sudoríparas/etiología , Adenoma de las Glándulas Sudoríparas/patología , Anciano , Diagnóstico Diferencial , Glándulas Ecrinas/patología , Femenino , Humanos , Hiperplasia/complicaciones , Úlcera de la Pierna/patología , Neoplasias de las Glándulas Sudoríparas/patologíaRESUMEN
BACKGROUND: Pustulosis palmaris et plantaris (PPP) is a chronic inflammatory disease consisting of polymorphonuclear leukocyte infiltration, and is often exacerbated by focal infections such as tonsillitis. In some cases, metal allergy has been reported. OBJECTIVE: The purpose of this study was to evaluate (1) the significance of metal allergy in the formation of pustules, and (2) the participation of leukotriene (LT) B(4) in the formation of pustules of PPP. METHODS: Patch tests with metals were performed on 7 patients with PPP, and both pustular and plasma levels of LTB(4) were measured in these 7 patients before and 48 hours after metal patch tests. RESULTS: Palmoplantar pustules were exacerbated after the metal patch tests in all 7 patients. The mean levels of LTB(4) in plasma and pustules of the volar surface at 48 hours after the metal patch tests were significantly higher than those before the metal patch tests. CONCLUSION: Metals can be important in the pathogenesis of PPP by contributing to the induction of high LTB(4) concentration in the pustules.
Asunto(s)
Leucotrieno B4/sangre , Metales/efectos adversos , Psoriasis/inducido químicamente , Administración Tópica , Femenino , Humanos , Hipersensibilidad , Masculino , Metales/inmunología , Persona de Mediana Edad , Pruebas del Parche , Psoriasis/inmunologíaRESUMEN
Mouse keratin 6a (MK6a) is constitutively expressed in a single cell layer of the outer root sheath (ORS) of hair follicles, but its synthesis can be induced in interfollicular epidermis including the basal cell layer in response to perturbing stimuli. A basally inducible human K6 (HK6) isoform has not been described, and it is not clear which of the known HK6 isoforms is expressed in the ORS. In this study we show that expression of a dominant-negative MK6a construct (Delta2B-P) in the interfollicular epidermis caused severe blistering and neonatal lethality, suggesting that mutations in a yet to be identified basally expressed HK6 isoform might result in a severe blistering phenotype. Surviving Delta2B-P animals showed transgene expression only in isolated epidermal cells and not in all cells of the ORS, but nevertheless developed severe alopecia. Expression of two different C-terminal mutant transgenes also caused alopecia while a third C-terminal mutant had no phenotypic conse- quences. Electron microscopy revealed that Delta2B-P expression resulted in the collapse of keratin filaments, while destruction of hair follicles in the two phenotypic C-terminal mutant lines occurred in the absence of filament abnormalities. The latter finding indicates that the innermost ORS cells are uniquely sensitive to expression of even slightly altered K6 proteins, suggesting that mutations affecting an HK6 isoform expressed in this cell layer could result in alopecia in humans as well.
Asunto(s)
Epidermis/metabolismo , Genes Dominantes , Folículo Piloso/metabolismo , Queratinas/genética , Transgenes , Edad de Inicio , Alopecia/genética , Secuencia de Aminoácidos , Animales , Animales Recién Nacidos , Epidermis/patología , Epidermis/ultraestructura , Expresión Génica , Folículo Piloso/patología , Folículo Piloso/ultraestructura , Queratinas/biosíntesis , Queratinas/ultraestructura , Ratones , Ratones Endogámicos BALB C , Ratones Transgénicos , Microscopía Electrónica , Datos de Secuencia Molecular , Mutagénesis Sitio-Dirigida , Fenotipo , Isoformas de Proteínas/biosíntesis , Isoformas de Proteínas/genética , Enfermedades de la Piel/genética , Enfermedades de la Piel/patología , Factores de TiempoAsunto(s)
Carcinoma in Situ/metabolismo , Carcinoma/metabolismo , Enfermedad de Paget Extramamaria/metabolismo , Receptores de Progesterona/metabolismo , Neoplasias Cutáneas/metabolismo , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/metabolismo , Femenino , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana EdadRESUMEN
We report a case of histiocytic necrotizing lymphadenitis in a 28-year-old woman. The biopsy specimen of the enlarged lymph node showed lymphocytes, histiocytes, and a large amount of nuclear debris as well as marked eosinophilic deposits. We found DNA fragments by means of the modified TUNEL method, especially in the transitional area between intact cells and the foci of eosinophilic deposits and the cells positive for anti-Fas antibody in the biopsied lymph node. Therefore, the necrotic appearance of the lymph node was thought to be caused by apoptosis induced by the Fas-Fas ligand system. We hypothesize that the apoptosis was strongly related to the pathogenesis of this disease.
Asunto(s)
Apoptosis , Linfadenitis Necrotizante Histiocítica/patología , Ganglios Linfáticos/patología , Adulto , Biopsia con Aguja , Cuello del Útero , Femenino , Estudios de Seguimiento , Glucocorticoides/administración & dosificación , Linfadenitis Necrotizante Histiocítica/diagnóstico , Linfadenitis Necrotizante Histiocítica/tratamiento farmacológico , Humanos , Inmunohistoquímica , Necrosis , Prednisolona/administración & dosificación , Resultado del TratamientoAsunto(s)
Carcinoma in Situ/genética , Carcinoma/genética , Proteínas Oncogénicas v-erbB/metabolismo , Enfermedad de Paget Extramamaria/inmunología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Regulación Neoplásica de la Expresión Génica , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana EdadAsunto(s)
Proteína BRCA1/inmunología , Músculo Liso/inmunología , Anticuerpos/inmunología , Especificidad de Anticuerpos , Proteína BRCA1/análisis , Proteína BRCA1/química , Reacciones Cruzadas , Humanos , Inmunohistoquímica , Músculo Liso/química , Músculo Liso/citología , Fragmentos de Péptidos/inmunología , Piel/química , Piel/citología , Piel/inmunologíaRESUMEN
We report a case of diffuse necrobiosis lipoidica (NL) which first appeared on the legs and scrotum, before gradually spreading across the back and arms; the patient also suffered from diabetes mellitus, and the NL lesion began to disappear as the diabetes mellitus was controlled. The possible contribution of various glycation and glycoxidation products of collagen to the pathogenesis of NL is discussed.
Asunto(s)
Diabetes Mellitus Tipo 2/complicaciones , Necrobiosis Lipoidea/etiología , Colágeno/metabolismo , Productos Finales de Glicación Avanzada , Humanos , Pierna , Masculino , Persona de Mediana Edad , EscrotoRESUMEN
To explore the role of retinoids in epidermal development, we recently targeted expression of a dominant-negative, retinoic acid receptor mutant (RAR alpha403) in the epidermis of transgenic mice and observed an unexpected loss of barrier function. In this paper, we demonstrate that transgenic mice expressing the RAR alpha403 transgene show attenuated responsiveness to topical application of all-trans retinoic acid, in agreement with our previous in vitro data. We also show that the vitamin D3 receptor is unaffected in its ability to transactivate in the presence of the dominant-negative RAR alpha403 transgene, indicating that the RAR alpha403 is unlikely to be functioning through a global sequestration of retinoid X receptors. Additionally, we show that the disruption of epidermal barrier function results in a dramatic 4 C drop in mean body surface temperature, probably accounting for the extremely high incidence of neonatal mortality in severely phenotypic pups. Some severely affected pups do survive and show a pronounced hyperkeratosis at postpartum day 4, consistent with previously documented effects of vitamin A deficiency. Biochemical analysis of the severely phenotypic neonates indicates elevated phospholipids and glycosylceramides in the stratum comeum, which results from altered lipid processing. Taken together with previous studies, these data provide strong evidence linking the retinoid-signaling pathway with modulation of lipid processing required for formation of epidermal barrier function.
Asunto(s)
Metabolismo de los Lípidos , Receptores de Ácido Retinoico/metabolismo , Retinoides/metabolismo , Transducción de Señal , Administración Tópica , Animales , Animales Recién Nacidos , Temperatura Corporal , Ceramidas/análisis , Epidermis/metabolismo , Colorantes Fluorescentes , Queratosis , Ratones , Ratones Transgénicos , Oxazinas , Fosfolípidos/análisis , Receptores de Calcitriol/metabolismo , Receptores de Ácido Retinoico/genética , Receptor alfa de Ácido Retinoico , Receptores X Retinoide , Piel/química , Factores de Transcripción/metabolismo , Transgenes , Tretinoina/farmacologíaAsunto(s)
Enfermedad de Bowen/patología , Mitosis , Neoplasias Cutáneas/patología , Proteína p53 Supresora de Tumor/análisis , Enfermedad de Bowen/genética , Recuento de Células , Ciclo Celular , Genes p53/genética , Humanos , Inmunohistoquímica , Antígeno Ki-67/análisis , Mutación/genética , Neoplasias Cutáneas/genéticaRESUMEN
We report a case of papillary tubular adenoma, arising on the knee joint. The overall histologic structure of the tumor is consistent with that of papillary tubular adenoma with slight interluminal papillary changes, but most of the tumor cells present vacuolization outlined by carcinoembryonic antigen staining, suggesting that this adenoma may have resulted from microlumen formation. This is, to our knowledge, the first reported case of a papillary tubular adenoma with marked tubular vacuolization.