An intracranial carcinoma in a Mexican woman with Bloom syndrome.
An intracranial cell squamous carcinoma was found in a 27-year-old Mexican woman with Bloom syndrome (BS), including growth retardation, sun-sensitive telangiectatic erythema, defective immunity, and increased number of mitotic chiasmata and sister chromatid exchanges. The tumour, probably originating from the inner or middle ear epithelium, was resected but the patient died a few days after surgery. There was no parental consanguinity nor Jewish or European ancestry for at least five generations; in fact, her parents were mostly indigenous people. This case represents an undescribed intracranial malignancy in BS and the third Mexican BS patient reported. The typical BS phenotype in a woman with pigmented skin challenges the contention that pigmented females are less severely affected.
Nuño-Arana
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Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, Mexico.
Garcia-Garcia
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VA
Espejo-Plascencia
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Ramos-Zavala
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Rivera
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H
D000328:Adult; D001816:Bloom Syndrome; D001932:Brain Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000473:pathology / Q000601:surgery; D002294:Carcinoma, Squamous Cell / Q000150:complications* / Q000175:diagnosis / Q000473:pathology / Q000601:surgery; D004428:Ear Neoplasms / Q000150:complications / Q000175:diagnosis / Q000473:pathology / Q000601:surgery; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008800:Mexico