RESUMO
Paciente do sexo feminino, com 59 anos de idade, portadora de mastocitose sistêmica há 20 anos. A mastocitose é doença rara, caracterizada pela proliferação excessiva e o subsequente acúmulo de mastócitos em órgãos e tecidos, principalmente na medula óssea, pele e no trato gastrointestinal. Há 1 mês, relatava história de novas lesões cutâneas caracterizadas por pápulas e placas eritemato-edematosas com escoriação e intenso prurido. Feito o raspado da pele com confirmação diagnóstica de escabiose.
A 59-year-old female patient had a diagnosis of systemic mastocytosis for 20 years. Mastocytosis is a rare disease characterized by excessive proliferation and accumulation of mast cells in organs and tissues, especially in the bone marrow, skin and gastrointestinal tract. She reported new skin lesions characterized by erythematous papules and plaques with excoriation and intense itching for one month. Skin scraping confirmed the diagnosis of scabies.
Assuntos
Humanos , Pessoa de Meia-Idade , Prurido , Escabiose , Ivermectina , Mastocitose Sistêmica , Pacientes , Pele , Terapêutica , Medula Óssea , Mastocitose , Doenças Raras , Trato Gastrointestinal , Diagnóstico , MastócitosRESUMO
A 4 years-old girl was diagnosed with aggressive systemic mastocytosis at 2 months after the end of chemotherapy including cisplatin, bleomycin and etoposide for an ovarian germ cell tumor (GCT). She was shown pigmented skin lesion, hepatosplenomegaly, thrombocytopenia and increased mast cells with positive toluidine blue staining on the bone marrow examination. Immunohistochemical staining for c-kit was highly expressed in the bone marrow and skin, but not in the GCT specimen. However, c-kit point mutation was detected in the bone marrow, peripheral blood and GCT tissue when performing PCR via oligonucleotide sequencing. We report here on one case of aggressive systemic mastocytosis following ovarian germ cell tumor with c-kit point mutation.