RESUMO
Nasosinusal mucoceles, although benign, are aggressive and sometimes destructive lesions. They may occur as a result of trauma, infection, sinus surgery and head and neck radiation. We describe three patients presenting mucocele, with the history of nasopharyngeal and temporal fossa cancers treated by radiotherapy.
Assuntos
Mucocele/etiologia , Doenças dos Seios Paranasais/etiologia , Lesões por Radiação/etiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Radioterapia/efeitos adversosRESUMO
Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid ß-glucosidase. In order to determine the mutation spectrum in Tunisia, we performed recurrent mutation screening in 30 Tunisian patients with Gaucher disease. Screening of recurrent mutation by PCR/RFLP and direct sequencing had shown that N370S was the most frequent mutation (22/50 mutant alleles, 44%), followed by L444P mutation, which is found in 16% (8/50 mutant alleles). The recombinant allele (RecNciI) represented 14%. Our findings revealed that the genotype N370S/RecNciI was mosst frequent in patients with childhood onset and it was associated with severe visceral involvement. The screening of these three mutations provided a simple tool for molecular diagnosis of Gaucher disease in Tunisian patients and allowed also genetic counselling for their family members.
Assuntos
Doença de Gaucher/diagnóstico , Doença de Gaucher/genética , Técnicas de Diagnóstico Molecular , Adolescente , Adulto , Idade de Início , Criança , Pré-Escolar , Análise Mutacional de DNA/métodos , Feminino , Doença de Gaucher/complicações , Doença de Gaucher/epidemiologia , Predisposição Genética para Doença , Genótipo , Glucosilceramidase/genética , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase/métodos , Polimorfismo de Fragmento de Restrição/fisiologia , Tunísia/epidemiologia , Adulto JovemRESUMO
We report a retrospective study of 15 cases of pyoderma gangrenosum. The male/female ratio was 2, average age 40 years (range: 2-48 years). The typical ulcerous form was observed in 11 patients, whereas bullous pyodrma gangrenosum was noted in 2 patients and the granulomatous superficial form in 2 others. The leg was the most frequent localization. It was often associated with another skin localization. Two patients had neutrophilic pulmonary involvement which was concomitant to the skin ulcers. Association with internal disease was found in 8 patients. Histology showed vasculitis in 11 patients. In 9 of them, leukocytoclastic vasculitis was observed. Prednisone and clofazimine were the most frequently prescribed drugs. Th rate of recurrence of pyoderma gangrenosum was 46% independently of treatment. Occurrence of neutrophilic pneumopathy was rapidly fatal in two of our patients
