Assuntos
Autoanticorpos , Dermatomiosite , Miosite , Estudos de Coortes , Dermatomiosite/complicações , Humanos , Miosite/complicaçõesRESUMO
Autosomal recessive congenital ichthyosis (ARCI) caused by mutations in CYP4F22 is very rare. CyP4F22, a protein of the cytochrome-P450 family 4, encodes an epidermal ω-hydroxylase decisive in the formation of acylceramides, which is hypothesized to be crucial for skin-barrier function. We report a girl with consanguineous parents presenting as collodion baby with contractures of the great joints and palmoplantar hyperlinearity. In the course of the disease she developed fine scaling of the skin with erythroderma, the latter disappearing until the age of 6 months. Her sister showed a generalized fine-scaling phenotype, and, interestingly, was born without a collodion membrane. The analysis of all known candidate genes for ARCI in parallel with a next-generation sequencing approach using a newly designed dermatogenetics gene panel revealed a previously unknown homozygous splice-site mutation c.549+5G>C in CYP4F22 in both girls, confirming the diagnosis of ARCI. Ultrastructural analysis by transmission electron microscopy in both patients showed epidermal hyperplasia, orthohyperkeratosis with persistence of corneodesmosomes into the outer stratum corneum layers, fragmented and disorganized lamellar lipid bilayers, which could be ascribed to inhomogeneous lamellar body secretion, as well as lamellar body and lipid entombment in the corneocytes. These findings correlated with increased transepidermal water loss on the functional level. For the first time, we report a collodion baby phenotype and epidermal barrier impairment in CyP4F22-deficient epidermis at both the ultrastructural and functional level, and corroborate the importance of CyP4F22 for epidermal maturation and barrier function.
Assuntos
Sistema Enzimático do Citocromo P-450/genética , Ictiose Lamelar/genética , Mutação/genética , Consanguinidade , DNA Recombinante/genética , Feminino , Homozigoto , Humanos , Ictiose Lamelar/patologia , Recém-Nascido , Linhagem , Fenótipo , IrmãosAssuntos
Autoanticorpos/metabolismo , Autoantígenos/imunologia , Hiperplasia do Linfonodo Gigante/imunologia , Colágenos não Fibrilares/imunologia , Síndromes Paraneoplásicas/imunologia , Pênfigo/imunologia , Humanos , Erupções Liquenoides/imunologia , Masculino , Pessoa de Meia-Idade , Doenças da Boca/imunologia , Mucosa Bucal/imunologia , Colágeno Tipo XVIIRESUMO
In addition to general skin changes like pallor or dryness and the frequent, often excruciating nephrogenic pruritus, specific diseases in patients with renal failure may occur. Acquired perforating dermatoses are usually also highly pruritic. Calciphylaxis is a severe disease with poor prognosis. Nonhealing wounds with superinfection and progression to sepsis are characteristic. Bullous lesions can be caused by disturbances in porphyrin metabolism. Nephrogenic systemic fibrosis is a disease which was first described in 2000. Its incidence is already on the decline. Furthermore, this article provides an overview of systemic diseases which have both skin symptoms and kidney changes. These include connective tissue diseases, vasculitis or sarcoidosis and amyloidosis. After a kidney transplantation, particular attention must be paid to the development of skin tumors and infections. The last part of this article is dedicated to genodermatoses with skin and renal involvement, where numerous causative mutations have already been characterized. Knowing the correlations of characteristic skin symptoms and specific, potentially life-threatening kidney disease is important in order to initiate further investigations and steps such as referral to nephrologists at an early stage.
Assuntos
Dermatite/etiologia , Nefropatias/complicações , Transplante de Rim/efeitos adversos , Dermopatia Fibrosante Nefrogênica/diagnóstico , Neoplasias Cutâneas/etiologia , Dermatite/diagnóstico , Diagnóstico Diferencial , Medicina Baseada em Evidências , Humanos , Dermopatia Fibrosante Nefrogênica/etiologia , Prurido/diagnóstico , Prurido/etiologia , Neoplasias Cutâneas/diagnóstico , Avaliação de Sintomas/métodosRESUMO
Primary cutaneous cribriform apocrine carcinoma is a distinctive but little known variant of cutaneous apocrine carcinoma with indolent biological behaviour. It should not be mistaken for a cutaneous metastasis of a visceral carcinoma, an adenoid cystic basal cell carcinoma or a primary cutaneous adenoid cystic carcinoma.
Assuntos
Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/cirurgia , Erros de Diagnóstico/prevenção & controle , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/cirurgia , Diagnóstico Diferencial , Feminino , Humanos , Resultado do TratamentoAssuntos
Infarto Encefálico/patologia , Doença de Fabry/complicações , Meningite/etiologia , Acidente Vascular Cerebral/etiologia , Adulto , Infarto Encefálico/etiologia , Progressão da Doença , Feminino , Humanos , Leucoencefalopatia Multifocal Progressiva/etiologia , Imageamento por Ressonância Magnética/métodos , Meningite/patologia , Acidente Vascular Cerebral/patologiaRESUMO
Easy accessibility makes the skin extremely attractive for therapeutic gene transfer, but this feature may be equally responsible for inadvertent DNA uptake. Therefore we studied lacZ reporter gene expression after epicutaneous and intracutaneous administration of naked DNA, lipofection and transferrinfection to intact, tape-stripped, and wound-healing skin of hairless mice. Gold particles coated with 1 microg pCMVnlslacZ were inoculated with a gene gun as a positive control. Beta-galactosidase expression by skin cells, i.e., keratinocytes of the upper epithelial layers and single cells in the upper dermis, determined by X-Gal histochemistry was not observed except after ballistic gene transfer. By polymerase chain reaction we detected lacZ DNA after skin bombardment up to 4 weeks. After intracutaneous and epicutaneous application to normal and tape-stripped skin of the various delivery systems lacZ DNA was detectable up to 1 week. Epicutaneous application of the delivery systems to wounded skin resulted in lacZ DNA detectability up to 48 h only. Reverse-transcriptase polymerase chain reaction indicated transcription of the reporter gene after particle bombardment and intracutaneous injection, up to 48 h, but not after epicutaneous application of either delivery system. The possibility of inadvertent uptake of exogeneous DNA by intact and tape-stripped skin is evidenced by the detection of reporter gene DNA after epicutaneous application of naked DNA and DNA complexed to cationic lipids or transferrin-polylysine (transferrinfection). However, the effects of the presence and persistence of foreign genes in the target cells are not clear yet.