Cluster of Neurofibromatosis Cases in Remote Area of Northern Karnataka: A Case Series

Abstract Tumours of the nerve system and skin are hallmarks of neurofibromatosis, a neurocutaneous condition. One class of inherited illnesses known as phakomatoses includes neurofibromatosis type 1 (NF1) or von Recklinghausen disease. It may show up anywhere in the body, including the skin, eyes, bones, and organs. We report a visually recorded seven cases of NF1 from same area. Every single patient had some kind of skin symptom. We describe the presence of several isolated neurofibromas, café au lait macules, axillary and inguinal freckling, neurological or cognitive dysfunction, and Lisch nodules in 100% of the eyes as ocular symptoms. Also, a rare occurrence of plexiform neuroma seen. Rare and familial presentation and similar cases in the same region, these findings collectively underscore the complex nature of the patient's medical presentation, necessitating a multidisciplinary approach to management and care.

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Publication Details

Journal
PERSPECTIVES IN MEDICAL RESEARCH
Published
2024-08-31
DOI
https://doi.org/10.47799/pimr.1202.13
Primary Topic
Neurofibromatosis and Schwannoma Cases
Type
article
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article

Cluster of Neurofibromatosis Cases in Remote Area of Northern Karnataka: A Case Series

K Y Guruprasad, Kiran Sreya R, Waseem Javed Mohammed
PERSPECTIVES IN MEDICAL RESEARCH
Neurofibromatosis and Schwannoma Cases
article

Cluster of Neurofibromatosis Cases in Remote Area of Northern Karnataka: A Case Series

K Y Guruprasad, Kiran Sreya R, Waseem Javed Mohammed
article en

Abstract

Abstract Tumours of the nerve system and skin are hallmarks of neurofibromatosis, a neurocutaneous condition. One class of inherited illnesses known as phakomatoses includes neurofibromatosis type 1 (NF1) or von Recklinghausen disease. It may show up anywhere in the body, including the skin, eyes, bones, and organs. We report a visually recorded seven cases of NF1 from same area. Every single patient had some kind of skin symptom. We describe the presence of several isolated neurofibromas, café au lait macules, axillary and inguinal freckling, neurological or cognitive dysfunction, and Lisch nodules in 100% of the eyes as ocular symptoms. Also, a rare occurrence of plexiform neuroma seen. Rare and familial presentation and similar cases in the same region, these findings collectively underscore the complex nature of the patient's medical presentation, necessitating a multidisciplinary approach to management and care.

PERSPECTIVES IN MEDICAL RESEARCHVol. 12(2)
Openalex Percentile: Top 76%
Neurofibromatosis and Schwannoma Cases
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Cluster of Neurofibromatosis Cases in Remote Area of Northern Karnataka: A Case Series — K Y Guruprasad, Kiran Sreya R, et al. · PERSPECTIVES IN MEDICAL RESEARCH (2024) | TGRS Research Map | TGRS