RESUMO
We report staphylococcal scalded skin syndrome (SSSS) in a 67-year-old man. He showed diffuse erythema with erosion on his face and erythema with giant desquamation on his neck, axilla, genitalia, chest and abdomen 39 days after a coronary artery bypass graft and aortic valve replacement. He died of cardiac rupture caused by myocardial necrosis, and autopsy findings demonstrated prosthetic valve endocarditis due to a strain of exfoliative toxin-B producing methicillin-resistant Staphylococcus aureus. To the best of our knowledge, this is the first case of SSSS caused by prosthetic valve endocarditis.
Assuntos
Endocardite Bacteriana/diagnóstico , Endocardite Bacteriana/microbiologia , Próteses Valvulares Cardíacas/efeitos adversos , Infecções Relacionadas à Prótese/diagnóstico , Infecções Relacionadas à Prótese/microbiologia , Síndrome da Pele Escaldada Estafilocócica/diagnóstico , Síndrome da Pele Escaldada Estafilocócica/microbiologia , Staphylococcus aureus/isolamento & purificação , Idoso , Biópsia por Agulha , Endocardite Bacteriana/tratamento farmacológico , Evolução Fatal , Humanos , Japão , Masculino , Resistência a Meticilina , Infecções Relacionadas à Prótese/tratamento farmacológico , Síndrome da Pele Escaldada Estafilocócica/tratamento farmacológico , Staphylococcus aureus/efeitos dos fármacosRESUMO
Netherton syndrome (NS [MIM 256500]) is a rare and severe autosomal recessive disorder characterized by congenital ichthyosis, a specific hair-shaft defect (trichorrhexis invaginata), and atopic manifestations. Infants with this syndrome often fail to thrive; life-threatening complications result in high postnatal mortality. We report the assignment of the NS gene to chromosome 5q32, by linkage analysis and homozygosity mapping in 20 families affected with NS. Significant evidence for linkage (maximum multipoint LOD score 10.11) between markers D5S2017 and D5S413 was obtained, with no evidence for locus heterogeneity. Analysis of critical recombinants mapped the NS locus between markers D5S463 and D5S2013, within an <3.5-cM genetic interval. The NS locus is telomeric to the cytokine gene cluster in 5q31. The five known genes encoding casein kinase Ialpha, the alpha subunit of retinal rod cGMP phosphodiesterase, the regulator of mitotic-spindle assembly, adrenergic receptor beta2, and the diastrophic dysplasia sulfate-transporter gene, as well as the 38 expressed-sequence tags mapped within the critical region, are not obvious candidates. Our study is the first step toward the positional cloning of the NS gene. This finding promises a better understanding of the molecular mechanisms that control epidermal differentiation and immunity.
Assuntos
Mapeamento Cromossômico , Cromossomos Humanos Par 5/genética , Cabelo/anormalidades , Hipersensibilidade Imediata/genética , Ictiose/genética , Adolescente , Adulto , Criança , Pré-Escolar , Citocinas/genética , Feminino , Genes Recessivos/genética , Cabelo/metabolismo , Haplótipos/genética , Homozigoto , Humanos , Células Híbridas/metabolismo , Hipersensibilidade Imediata/fisiopatologia , Ictiose/fisiopatologia , Lactente , Recém-Nascido , Escore Lod , Masculino , Repetições de Microssatélites/genética , Linhagem , RNA Mensageiro/genética , Recombinação Genética/genética , SíndromeRESUMO
We performed an immunohistochemical study with 11 antikeratin antibodies using the newly developed AMeX (acetone-methylbenzoate-xylene) tissue processing method. Specimens processed with this method showed almost as good preservation and morphological detail as routinely processed, formalin-fixed and paraffin-embedded tissue specimens, and as good preservation of antigenicity as fresh frozen tissue specimens. Thus, we propose the wide use of this method in dermatology.
Assuntos
Anticorpos Monoclonais , Técnicas Imunoenzimáticas , Queratinas/imunologia , Pele , Preservação de Tecido/métodos , Acetona , Adulto , Idoso , Benzoatos , Feminino , Humanos , Masculino , XilenosRESUMO
Keratin specificity analyses of eight anti-keratin antibodies (34 beta B4 (K1), 35 beta H11 (K8), Ks 13.1 (K13), Ks 19.1 (K19), PKK1, LP34 (CK1), KL1 and AE1) using keratin protein derived from normal thigh epidermis, normal parotid gland and a human squamous cell carcinoma cell line (HSC-5) were performed, and compared with those described in the data sheets. The reactivities of LP34, KL1 and PKK1 were markedly different from those mentioned in the data sheets. The immunostaining pattern of these antibodies in normal skin using formalin-fixed and paraffin-embedded tissue specimens was also examined. The staining patterns of suprabasal keratinocytes (K1, K13, CK1 and KL1 positive), basal cells of the epidermis (PKK1 and AE1 positive), inner cells of the ducts (K8, K13, CK1, KL1 and AE1 positive) and secretory cells of sweat glands (K8, K19, PKK1, KL1 and AE1 positive), mature cells (K8 and KL1 positive) and peripheral cells (CK1, KL1 and AE1 positive) of sebaceous glands and outer root sheaths (PKK1, CK1, KL1 and AE1 positive) were specific. Thus, we conclude that the differentiation of epidermis and skin appendages is possible by immunostaining with these eight anti-keratin antibodies using formalin-fixed and paraffin-embedded tissue specimens with proper protease pretreatment.
