RESUMO
Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lymphadenopathies and spleen enlargement without systemic symptoms. An increased number of monocytes were found in skin biopsy, peripheral blood and bone marrow (BM). Juvenile myelomonocytic leukaemia (JMML) was suspected. Genetic study using peripheral blood showed no mutations in the KRAS, PTPN11, NRAS, CBL or BCR-ABL genes, but bone marrow analysis revealed a mutation (p-G12S/c.34 G>A) in the KRAS gene. The karyotype was normal. No KRAS mutations were found using molecular analysis of saliva. The diagnosis of RALD was proposed. The differential diagnosis between RALD and JMML is challenging because there are no established criteria to differentiate between them. The clinical course of RALD is uncertain, so long-term follow-up is recommended.
Assuntos
Síndrome Linfoproliferativa Autoimune/diagnóstico , Proteínas Proto-Oncogênicas p21(ras) , Dermatopatias/etiologia , Pele/patologia , Síndrome Linfoproliferativa Autoimune/complicações , Síndrome Linfoproliferativa Autoimune/genética , Síndrome Linfoproliferativa Autoimune/patologia , Biópsia , Criança , Análise Mutacional de DNA , Diagnóstico Diferencial , Genes ras , Humanos , Leucemia Mielomonocítica Juvenil/diagnóstico , Masculino , Mutação , Proteínas Proto-Oncogênicas p21(ras)/genéticaAssuntos
Anti-Inflamatórios/efeitos adversos , Encefalomielite Aguda Disseminada/induzido quimicamente , Metilprednisolona/efeitos adversos , Anti-Inflamatórios/administração & dosagem , Ataxia/tratamento farmacológico , Ataxia/etiologia , Criança , Vacina contra Difteria, Tétano e Coqueluche/efeitos adversos , Relação Dose-Resposta a Droga , Febre/tratamento farmacológico , Febre/etiologia , Humanos , Masculino , Metilprednisolona/administração & dosagem , Rigidez Muscular/tratamento farmacológico , Rigidez Muscular/etiologiaRESUMO
The cases of three female Guinean children are described. Bloods tests were nonspecific, showing a moderately high globular sedimentation rate. The patients received combined therapy with systemic antibiotic therapy (including local gentamicin administration in two of the three patients) and surgery. One patient returned to Guinea and was lost to follow-up. The second patient showed severe sequelae and the third patient had a favorable outcome. In recent years, the prevalence of chronic osteomyelitis in Africa has increased. Most patients have multiple bone involvement and multiple etiology. Blood cultures are negative in 40 % of patients and severe radiologic abnormalities, most commonly fractures, are frequent. A successful therapeutic regimen must be based on antibiotic and surgical treatment.
Assuntos
Osteomielite , Criança , Pré-Escolar , Doença Crônica , Emigração e Imigração , Feminino , Guiné/etnologia , Humanos , Osteomielite/etiologia , Osteomielite/fisiopatologia , Osteomielite/terapia , Espanha/epidemiologiaRESUMO
No disponible
Assuntos
Adolescente , Masculino , Lactente , Feminino , Humanos , Síndrome , Eritema Infeccioso , Dermatopatias Papuloescamosas , Púrpura , Vacina BCG , Linfadenite , Febre , Dermatoses da Mão , Dermatoses do PéRESUMO
No disponible
