التفاصيل البيبلوغرافية
| العنوان: |
Neurofibromatosis 1: A family case series. |
| المؤلفون: |
Sethi, Neha1 (AUTHOR), Chadha, Charu1 (AUTHOR), Goyal, Sumit2 (AUTHOR), Kaur, Manpreet1 (AUTHOR) |
| المصدر: |
Journal of Family Medicine & Primary Care. May2022, Vol. 11 Issue 5, p2252-2255. 4p. |
| مصطلحات موضوعية: |
*NEUROFIBROMA, *NEUROFIBROMATOSIS 1, *CUTANEOUS manifestations of general diseases, *FAMILIES, *EYELIDS |
| مستخلص: |
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease comes under a group of multisystem hereditary syndromes called phakomatoses. It presents with skin, ophthalmic, bony, and systemic manifestations. We present a photographically well-documented case series of NF in a family (n = 3). Skin manifestations were present in all the patients. The ophthalmic manifestations were Lisch nodules (100% of eyes), subcutaneous neurofibroma of eyelids (33% of eyes), mechanical ptosis (33% of eyes), and mechanical ectropion (16.5% of eyes). We report the rare occurrence of multiple solitary neurofibromas causing mechanical ptosis and mechanical ectropion. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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