RESUMO
Dowling-Degos disease (DDD) is a rare autosomal-dominant genodermatosis and it has been associated with hidradenitis suppurativa (HS). Deregulation of NOTCH pathway has been linked to the development of HS in DDD context (DDD-HS). However, molecular alterations in DDD-HS, including altered gene expression of NOTCH and downstream effectors that are involved in the follicular differentiation and inflammatory response, are poorly defined. We report two cases of patients diagnosed with DDD-HS, one of those, under Adalimumab treatment. Our results have shown downregulation of NOTCH1/NCSTN pathway, distinct molecular profiles of inflammatory cytokines (IL23A and TNF), and a novel aberrant upregulation of genes involved in the cornified envelope (CE) formation (SPRR1B, SPRR2D, SPRR3, and IVL) in paired HS lesions of two DDD patients.
Assuntos
Citocinas/metabolismo , Regulação da Expressão Gênica , Hidradenite Supurativa/patologia , Hiperpigmentação/patologia , Mediadores da Inflamação/metabolismo , Receptor Notch1/metabolismo , Dermatopatias Genéticas/patologia , Dermatopatias Papuloescamosas/patologia , Adulto , Secretases da Proteína Precursora do Amiloide/genética , Secretases da Proteína Precursora do Amiloide/metabolismo , Proteínas Ricas em Prolina do Estrato Córneo/genética , Proteínas Ricas em Prolina do Estrato Córneo/metabolismo , Feminino , Hidradenite Supurativa/complicações , Hidradenite Supurativa/genética , Hidradenite Supurativa/metabolismo , Humanos , Hiperpigmentação/complicações , Hiperpigmentação/genética , Hiperpigmentação/metabolismo , Glicoproteínas de Membrana/genética , Glicoproteínas de Membrana/metabolismo , Pessoa de Meia-Idade , Prognóstico , Receptor Notch1/genética , Dermatopatias Genéticas/complicações , Dermatopatias Genéticas/genética , Dermatopatias Genéticas/metabolismo , Dermatopatias Papuloescamosas/complicações , Dermatopatias Papuloescamosas/genética , Dermatopatias Papuloescamosas/metabolismoRESUMO
BACKGROUND: Actinic prurigo is a chronic photodermatosis of unclear pathogenesis. Epidermal Langerhans cell resistance to migration after ultraviolet radiation exposure has been proposed as a possible mechanism, as occurs in polymorphic light eruption patients. The purpose of this study was to evaluate the effect of solar-simulated radiation (SSR) on epidermal Langerhans cells in the uninvolved skin of actinic prurigo patients. PATIENTS AND METHODS: Fifteen patients with actinic prurigo participated in the study. A biopsy from the uninvolved and unirradiated skin of the left buttock was performed, and another from the uninvolved skin of the right buttock, 72 hours after exposure to two MEDs of SSR. Immunohistochemistry staining was used to identify Langerhans cells (CD1a) in all samples. RESULTS: In actinic prurigo patients with normal MED, there was a significant decrease in the number of epidermal Langerhans cells on the buttock skin exposed to two MED of SSR compared with the unirradiated buttock skin (P = .02 and .035 respectively). On the contrary, in patients with low MED there were no significant differences in the number of epidermal Langerhans cells between irradiated and unirradiated skin (P = .39). CONCLUSION: Epidermal Langerhans cells migration after ultraviolet radiation exposure is decreased in actinic prurigo patients with low MED as has been reported in PLE patients, especially, those with low MED or positive UVB provocation tests. Langerhans cells resistance could be part of a common pathogenic mechanism in these two photodermatoses.
Assuntos
Epiderme/metabolismo , Células de Langerhans/metabolismo , Transtornos de Fotossensibilidade/radioterapia , Dermatopatias Genéticas/radioterapia , Luz Solar , Adulto , Epiderme/patologia , Eritema/metabolismo , Eritema/patologia , Feminino , Humanos , Células de Langerhans/patologia , Masculino , Pessoa de Meia-Idade , Transtornos de Fotossensibilidade/metabolismo , Transtornos de Fotossensibilidade/patologia , Dermatopatias Genéticas/metabolismo , Dermatopatias Genéticas/patologiaRESUMO
Actinic prurigo (AP) is an idiopathic photodermatosis; the initial manifestations usually occur during the first decades of life but can appear at any age. Cases are usually diagnosed late once the lesions have exacerbated; due to the extensive involvement of the vermilion border and the etiology, it has been confused with and related to a potentially malignant process. Syndecan-1 and E-cadherin were positive in the epidermis, with moderate-to-intense staining in 100% of samples. Ki67 and MCM3 were expressed in the lower third of the epidermis and showed greater immunolabeling in samples that contained lymphoid follicles (Ki 67: epidermis [17.7% ± 6.79%] and dermis [7.73% ± 6.69%]; MCM3: epidermis [22.92% ± 10.12%] and dermis [6.13% ± 6.27%]). In conclusión AP is a disease in which there is no evidence that the lesions are potentially cancerous. AP cheilitis should not be confused with actinic cheilitis because they are separate entities.
Assuntos
Caderinas/metabolismo , Antígeno Ki-67/metabolismo , Componente 3 do Complexo de Manutenção de Minicromossomo/metabolismo , Transtornos de Fotossensibilidade/patologia , Dermatopatias Genéticas/patologia , Sindecana-1/metabolismo , Antígenos CD , Biópsia , Derme/patologia , Epiderme/patologia , Feminino , Humanos , Imuno-Histoquímica , Masculino , Transtornos de Fotossensibilidade/diagnóstico , Transtornos de Fotossensibilidade/metabolismo , Dermatopatias Genéticas/diagnóstico , Dermatopatias Genéticas/metabolismoRESUMO
O aparelho ungueal pode ser acometido por tumores benignos e malignos, estes podem ser comuns ou raros. Tumores ungueais podem ser tardiamente diagnosticados, provavelmente, porque a unha pode esconder lesões tumorais ou mimetizar dermatoses inflamatórias.