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1.
Am J Case Rep ; 21: e920117, 2020 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-32123152

RESUMO

BACKGROUND Numb chin syndrome is a rare and under diagnosed neuropathy of the inferior alveolar branch of the trigeminal nerve usually causing a lower lip and chin anesthesia or paresthesia. The syndrome is commonly associated with broad-spectrum malignant and non-malignant conditions. CASE REPORT Here we report a case of a 30-year-old male who presented with numb chin syndrome in the form of jaw pain, paresthesia, and hypoesthesia of the mental area as the presenting symptoms of acute of myeloid leukemia with t(8;21) treated with (3+7) protocol (3 days anthracycline+7 days cytarabine). The pain and paresthesia improved but hypothesia persisted. CONCLUSIONS Acute myeloid leukemia is one of the most serious causes of numb chin syndrome which should not be overlooked.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Queixo , Hipestesia/tratamento farmacológico , Leucemia Mieloide Aguda/tratamento farmacológico , Parestesia/tratamento farmacológico , Adulto , Humanos , Masculino , Síndrome
2.
Front Pediatr ; 7: 130, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31069200

RESUMO

Autosomal dominant hyper-IgE syndrome caused by mutations in the transcription factor STAT3 (AD-HIES) is characterized by a collection of immunologic and non-immune features including eczema, recurrent infections, elevated IgE levels, and connective tissue anomalies. We report the case of a Qatari child with a history of recurrent staphylococcal skin infections since infancy, who was found to have a novel, de novo mutation in STAT3 (c.1934T>A, p.L645Q). The absence of mucocutaneous candidiasis and undetectable IgE levels until the age of 7 years prolonged the time to molecular confirmation of the cause for the patient's immune deficiency. STAT3 p.L645Q was found to have decreased transcriptional capacity. The patient also had low levels of Th17 cells and STAT3 phosphorylation was impaired in patient-derived cells. Nearly 100 unique mutations in STAT3 have been reported in association with AD-HIES.

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