التفاصيل البيبلوغرافية
| العنوان: |
Cutaneous granulomas in a child with Ataxia telangiectasia - A rare association. |
| المؤلفون: |
Dewang, Shruti, Awake, Praneet, Chandravathi, P. L., Tourani, Vijaya K. |
| المصدر: |
Journal of Pakistan Association of Dermatologists; Jul-Sep2020, Vol. 30 Issue 3, p511-515, 5p |
| مصطلحات موضوعية: |
ATAXIA telangiectasia, HEREDITARY hemorrhagic telangiectasia, MOTOR ability in children, EOSINOPHILIC granuloma, CEREBELLAR ataxia, DNA repair, GENETIC testing |
| مستخلص: |
Ataxia-telangiectasia (AT) is an autosomal recessive disorder due to defective DNA damage repair. It is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasias and immune system dysregulation resulting in recurrent and progressive sino-pulmonary infections. We present a case of a 4 year old male child with delayed motor development and recurrent sino-pulmonary infections and complaints of multiple asymptomatic plaques over knees and nodules over elbows since 3 years. On investigations and genetic testing he was diagnosed as a case of AT. Biopsy of the lesion over knees showed non- infectious granulomas. We report the case owing to rarity of association of non-infectious cutaneous granuloma with AT. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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