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1.
Clin Exp Dermatol ; 48(5): 528-530, 2023 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-36702808

RESUMO

Although retinoids are considered as the most effective treatment, management of dissecting cellulitis of the scalp (DCS) is often challenging. A multicentre retrospective study was conducted to evaluate the efficacy of anti-tumour necrosis factor (TNF) agents in treating DCS after failure of other conventional treatments. Twenty-six patients were included. After a mean treatment duration of 19 months (SD 21), the median Physician's Global Assessment score decreased from 3 to 1. The median number of inflammatory nodules and abscesses decreased from 7 to 0.5 and from 1 to 0, respectively. The median Dermatology Life Quality Index and numerical rating scale score for pain severity decreased from 10 to 8 and 6 to 1, respectively. The median treatment satisfaction was 7 out of 10 on the Patient Satisfaction Index. This study confirms the efficacy of anti-TNF agents in treating patients with DCS that is resistant to conventional therapies.


Assuntos
Dermatoses do Couro Cabeludo , Inibidores do Fator de Necrose Tumoral , Humanos , Estudos Retrospectivos , Celulite (Flegmão)/tratamento farmacológico , Celulite (Flegmão)/patologia , Dermatoses do Couro Cabeludo/tratamento farmacológico , Fator de Necrose Tumoral alfa
2.
J Med Genet ; 48(4): 226-34, 2011 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-21398687

RESUMO

BACKGROUND: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant disorder predisposing humans to cutaneous and uterine leiomyomas; in 20% of affected families, type 2 papillary renal cell cancers (PRCCII) also occur with aggressive course and poor prognosis. HLRCC results from heterozygous germline mutations in the tumour suppressor fumarate hydratase (FH) gene. METHODS: As part of the French National Cancer Institute (INCa) 'Inherited predispositions to kidney cancer' network, sequence analysis and a functional study of FH were preformed in 56 families with clinically proven or suspected HLRCC and in 23 patients with isolated PRCCII (5 familial and 18 sporadic). RESULTS: The study identified 32 different germline FH mutations (15 missense, 6 frameshifts, 4 nonsense, 1 deletion/insertion, 5 splice site, and 1 complete deletion) in 40/56 (71.4%) families with proven or suspected HLRCC and in 4/23 (17.4%) probands with PRCCII alone, including 2 sporadic cases. 21 of these were novel and all were demonstrated as deleterious by significant reduction of FH enzymatic activity. In addition, 5 asymptomatic parents in 3 families were confirmed as carrying disease-causing mutations. CONCLUSIONS: This study identified and characterised 21 novel FH mutations and demonstrated that PRCCII can be the only one manifestation of HLRCC. Due to the incomplete penetrance of HLRCC, the authors propose to extend the FH mutation analysis to every patient with PRCCII occurring before 40 years of age or when renal tumour harbours characteristic histologic features, in order to discover previously ignored HLRCC affected families.


Assuntos
Carcinoma de Células Renais/genética , Fumarato Hidratase/genética , Neoplasias Renais/genética , Mutação , Adulto , Idoso , Linhagem Celular Tumoral , Códon sem Sentido , Feminino , Mutação da Fase de Leitura , Deleção de Genes , Rearranjo Gênico , Genótipo , Mutação em Linhagem Germinativa , Humanos , Mutação INDEL , Leiomiomatose/congênito , Leiomiomatose/genética , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Síndromes Neoplásicas Hereditárias , Linhagem , Neoplasias Cutâneas , Neoplasias Uterinas
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