E-ISSN 3041-5594
 

Case Report
Online Published: 14 Nov 2025
 


A Rare Case Report of Neurofibromatosis Type 1 with Familial Involvement

Alyssa Feodora Ryanto, Catherine Keiko Gunawan, Anton Sumarpo.


Abstract
ABSTRACT
Background
Neurofibromatosis type 1 (NF1) is a rare, autosomal dominant neurocutaneous disorder characterized by multiple benign peripheral nerve sheath tumors (neurofibromas), along with various cutaneous, ocular, and skeletal manifestations. Although this is not the first case report of this disorder, increased public awareness is crucial. The patient herself lacked information about her condition, despite it affecting her everyday life and being passed down to her children.

Case presentation
Here, we report the case of a 60-year-old female who presented with numerous cutaneous nodules on her face, trunk, and extremities. These were accompanied by café-au-lait macules and axillary freckling. The initial changes were first noticed after the birth of her daughter and gradually progressed over the years. A detailed family history revealed similar cutaneous features in both the patient’s late mother and daughter, raising suspicion of an inherited pattern. The diagnosis of NF1 was established based on the National Institutes of Health diagnostic criteria, as the patient had more than two defining clinical features.

Conclusion
This case highlights the significance of a thorough clinical evaluation, detailed family history, and early diagnosis in managing patients with neurofibromatosis type 1.

Key words: Neurofibromatosis type 1 (NF1), neurofibromas, café-au-lait-macules


 
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How to Cite this Article
Pubmed Style

Ryanto AF, Gunawan CK, Sumarpo A. A Rare Case Report of Neurofibromatosis Type 1 with Familial Involvement. Case Rep Ser Med. 2025; 2(4): 69-73. doi:10.5455/CRSM.20250824103252


Web Style

Ryanto AF, Gunawan CK, Sumarpo A. A Rare Case Report of Neurofibromatosis Type 1 with Familial Involvement. https://www.wisdomgale.com/crsm/?mno=279332 [Access: November 20, 2025]. doi:10.5455/CRSM.20250824103252


AMA (American Medical Association) Style

Ryanto AF, Gunawan CK, Sumarpo A. A Rare Case Report of Neurofibromatosis Type 1 with Familial Involvement. Case Rep Ser Med. 2025; 2(4): 69-73. doi:10.5455/CRSM.20250824103252



Vancouver/ICMJE Style

Ryanto AF, Gunawan CK, Sumarpo A. A Rare Case Report of Neurofibromatosis Type 1 with Familial Involvement. Case Rep Ser Med. (2025), [cited November 20, 2025]; 2(4): 69-73. doi:10.5455/CRSM.20250824103252



Harvard Style

Ryanto, A. F., Gunawan, . C. K. & Sumarpo, . A. (2025) A Rare Case Report of Neurofibromatosis Type 1 with Familial Involvement. Case Rep Ser Med, 2 (4), 69-73. doi:10.5455/CRSM.20250824103252



Turabian Style

Ryanto, Alyssa Feodora, Catherine Keiko Gunawan, and Anton Sumarpo. 2025. A Rare Case Report of Neurofibromatosis Type 1 with Familial Involvement. Case Reports and Series in Medicine, 2 (4), 69-73. doi:10.5455/CRSM.20250824103252



Chicago Style

Ryanto, Alyssa Feodora, Catherine Keiko Gunawan, and Anton Sumarpo. "A Rare Case Report of Neurofibromatosis Type 1 with Familial Involvement." Case Reports and Series in Medicine 2 (2025), 69-73. doi:10.5455/CRSM.20250824103252



MLA (The Modern Language Association) Style

Ryanto, Alyssa Feodora, Catherine Keiko Gunawan, and Anton Sumarpo. "A Rare Case Report of Neurofibromatosis Type 1 with Familial Involvement." Case Reports and Series in Medicine 2.4 (2025), 69-73. Print. doi:10.5455/CRSM.20250824103252



APA (American Psychological Association) Style

Ryanto, A. F., Gunawan, . C. K. & Sumarpo, . A. (2025) A Rare Case Report of Neurofibromatosis Type 1 with Familial Involvement. Case Reports and Series in Medicine, 2 (4), 69-73. doi:10.5455/CRSM.20250824103252