RESUMO
JC virus (JCV) is a human polyomavirus that infects the central nervous system (CNS) of immunocompromised patients. JCV granule cell neuronopathy (JCV-GCN) is caused by infection of cerebellar granule cells, causing ataxia. A 77-year-old man with iatrogenic lymphopenia presented with severe ataxia and was diagnosed with JCV-GCN. His ataxia and cerebrospinal fluid (CSF) improved with intravenous immunoglobulin, high-dose intravenous methylprednisolone, mirtazapine, and mefloquine. Interleukin-7 (IL-7) therapy reconstituted his lymphocytes and reduced his CSF JCV load. One month after IL-7 therapy, he developed worsening ataxia and CSF inflammation, which raised suspicion for immune reconstitution inflammatory syndrome. Steroids were restarted and his ataxia stabilized.
Assuntos
Ataxia/tratamento farmacológico , Síndrome do Hamartoma Múltiplo/tratamento farmacológico , Hospedeiro Imunocomprometido , Interleucina-7/uso terapêutico , Leucoencefalopatia Multifocal Progressiva/tratamento farmacológico , Linfopenia/tratamento farmacológico , Malformações do Desenvolvimento Cortical do Grupo I/tratamento farmacológico , Idoso , Ataxia/diagnóstico , Ataxia/imunologia , Ataxia/virologia , Doença Crônica , Síndrome do Hamartoma Múltiplo/diagnóstico , Síndrome do Hamartoma Múltiplo/imunologia , Síndrome do Hamartoma Múltiplo/virologia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Vírus JC/imunologia , Vírus JC/patogenicidade , Vírus JC/fisiologia , Leucoencefalopatia Multifocal Progressiva/diagnóstico , Leucoencefalopatia Multifocal Progressiva/imunologia , Leucoencefalopatia Multifocal Progressiva/virologia , Linfopenia/diagnóstico , Linfopenia/imunologia , Linfopenia/virologia , Masculino , Malformações do Desenvolvimento Cortical do Grupo I/diagnóstico , Malformações do Desenvolvimento Cortical do Grupo I/imunologia , Malformações do Desenvolvimento Cortical do Grupo I/virologia , Mefloquina/uso terapêutico , Metilprednisolona/uso terapêutico , Mianserina/análogos & derivados , Mianserina/uso terapêutico , Mirtazapina , Proteínas Recombinantes/uso terapêuticoRESUMO
BACKGROUND: Cowden syndrome (CS) or multiple hamartoma syndrome is a cancer-associated genodermatosis inherited in an autosomal dominant pattern. One of the diagnostic criteria is facial papules which are felt to be trichilemmomas, benign hair follicle tumors, which some consider to be induced by human papillomavirus (HPV). OBJECTIVE: To search for HPV in skin tumors, especially trichilemmomas, from patients with CS. METHODS: Skin lesions from patients with CS were classified histologically. Each tumor was then analyzed for HPV DNA by polymerase chain reaction with different primer sets; positive amplicons were typed by direct sequencing. RESULTS: Twenty-nine biopsies from 7 patients with CS were investigated. Only 2 of 29 tumors clinically suspected of being trichilemmomas were confirmed histologically. In addition, 3 sclerotic fibromas, also typical of CS, were found, as well as 1 sebaceous hyperplasia. The other 23 lesions showed histological features of HPV- induced tumors in various stages of development. HPV DNA was found in 19 of 29 cutaneous lesions. Tumors without any histological signs of HPV induction were negative for HPV DNA. Two tumors which were histologically classified as common warts contained HPV types 27 and 28. All the 17 other HPV types belong to the group of epidermodysplasia-verruciformis-associated types. CONCLUSIONS: The majority of cutaneous lesions in CS contain HPV DNA. They may have a variety of histological patterns. Trichilemmomas are not clinically distinctive and can be difficult to identify in CS patients.