Assuntos
Doença de Mão, Pé e Boca , Feminino , Humanos , Masculino , Doença de Mão, Pé e Boca/diagnóstico , Adulto JovemAssuntos
Poluentes Atmosféricos/efeitos adversos , Catecóis/efeitos adversos , Dermatite Alérgica de Contato/etiologia , Laca/efeitos adversos , Corticosteroides/uso terapêutico , Dermatite Alérgica de Contato/tratamento farmacológico , Dermatite Alérgica de Contato/patologia , Antagonistas dos Receptores Histamínicos/uso terapêutico , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
We report herein the case of an 81-year-old female patient who presented with poor feeding, various skin lesions, and pancytopenia. She finally received the diagnosis of extranodal natural killer/T-cell lymphoma nasal type (ENKTL-NT) without nasal lesions after four skin biopsies. Skin lesions of ENKTL-NT are usually nonspecific, making diagnosis based on cutaneous findings alone difficult. Hence, repeated biopsies, not only of the lesion, but also of the surrounding, normal tissue, are needed especially when the skin lesions are of uncertain etiology or intractable and accompanied by systematic symptoms or pancytopenia.
Assuntos
Mucosa Bucal/patologia , Pênfigo/diagnóstico , Pênfigo/terapia , Idoso de 80 Anos ou mais , Feminino , HumanosAssuntos
ATPases Transportadoras de Cálcio/genética , Minociclina/uso terapêutico , Pênfigo Familiar Benigno/genética , Administração Oral , Adulto , Análise Mutacional de DNA , Virilha , Heterozigoto , Humanos , Masculino , Mutação de Sentido Incorreto , Pênfigo Familiar Benigno/tratamento farmacológico , Pênfigo Familiar Benigno/patologia , Escroto , Pele/patologia , Resultado do TratamentoAssuntos
Autoanticorpos/sangue , Dermatite Herpetiforme/imunologia , Desmocolinas/imunologia , Imunoglobulina G/imunologia , Pênfigo/imunologia , Administração Cutânea , Administração Oral , Autoantígenos/imunologia , Biópsia , Dapsona/administração & dosagem , Dapsona/uso terapêutico , Dermatite Herpetiforme/sangue , Dermatite Herpetiforme/tratamento farmacológico , Dermatite Herpetiforme/patologia , Fármacos Dermatológicos/administração & dosagem , Fármacos Dermatológicos/uso terapêutico , Desmogleína 1/imunologia , Desmogleína 3/imunologia , Ensaio de Imunoadsorção Enzimática , Feminino , Imunofluorescência , Fluprednisolona/administração & dosagem , Fluprednisolona/análogos & derivados , Fluprednisolona/uso terapêutico , Glucocorticoides/administração & dosagem , Glucocorticoides/uso terapêutico , Humanos , Pessoa de Meia-Idade , Colágenos não Fibrilares/imunologia , Pênfigo/sangue , Pênfigo/tratamento farmacológico , Pênfigo/patologia , Prurido/etiologia , Tomografia Computadorizada por Raios X , Colágeno Tipo XVIIRESUMO
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of hereditary skin disorder characterized by an aberrant cornification of the epidermis. ARCI is classified into a total of 11 subtypes (ARCI1-ARCI11) based on their causative genes or loci. Of these, the causative gene for only ARCI7 has not been identified, while it was previously mapped on chromosome 12p11.2-q13.1. In this study, we performed genetic analyses for three Lebanese families with ARCI, and successfully determined the linkage interval to 9.47 Mb region on chromosome 12q13.13-q14.1, which was unexpectedly outside of the ARCI7 locus. Whole-exome sequencing and the subsequent Sanger sequencing led to the identification of missense mutations in short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7) gene on chromosome 12q13.3, i.e. two families shared an identical homozygous mutation c.599T > C (p.Ile200Thr) and one family had another homozygous mutation c.214C > T (p.Arg72Trp). In cultured cells, expression of both the mutant SDR9C7 proteins was markedly reduced as compared to wild-type protein, suggesting that the mutations severely affected a stability of the protein. In normal human skin, the SDR9C7 was abundantly expressed in granular and cornified layers of the epidermis. By contrast, in a patient's skin, its expression in the cornified layer was significantly decreased. It has previously been reported that SDR9C7 is an enzyme to convert retinal into retinol. Therefore, our study not only adds a new gene responsible for ARCI, but also further suggests a potential role of vitamin A metabolism in terminal differentiation of the epidermis in humans.