BLEEDING NEUROFIBROMA AS A MANIFESTATION OF NF1-ASSOCIATED VASCULOPATHY WITH CONCOMITANT GASTROINTESTINAL STROMAL TUMOR : A RARE CASE REPORT
DOI:
https://doi.org/10.31004/prepotif.v10i1.54486Keywords:
Neurofibromatosis type 1, NF1, Cutaneous neurofibroma, NF1-associated vasculopathy, Gastrointestinal stromal tumor, GISTsAbstract
Neurofibromatosis tipe 1 (NF1) merupakan kelainan genetik autosomal dominan yang ditandai oleh manifestasi multisistem, termasuk predisposisi terhadap tumor dan kelainan vaskular. Salah satu komplikasi yang jarang dilaporkan adalah perdarahan aktif dari neurofibroma kutan akibat vasculopathy yang terkait dengan NF1. Gastrointestinal stromal tumor (GIST) juga memiliki hubungan erat dengan NF1, terutama muncul di usus halus, bersifat multifokal, dan sering kali tidak menunjukkan mutasi KIT maupun PDGFRA. Laporan kasus ini mendeskripsikan seorang perempuan berusia 53 tahun dengan riwayat NF1 yang datang ke unit gawat darurat dengan anemia akut akibat perdarahan aktif dari neurofibroma ulseratif di regio gluteal, serta riwayat GIST berisiko tinggi yang sebelumnya telah direseksi. Pemeriksaan fisik menunjukkan tanda khas NF1 berupa café-au-lait macules, neurofibroma multipel, dan nodul Lisch. Pemeriksaan laboratorium mengungkapkan hemoglobin 5,2 g/dL dengan leukositosis, sedangkan pencitraan abdomen menunjukkan massa mesenterik besar yang sesuai dengan GIST. Penatalaksanaan meliputi transfusi darah, perawatan luka lokal, serta terapi suportif, dengan perbaikan klinis meskipun pasien menolak tindakan eksisi lebih lanjut. Kasus ini menyoroti peran vasculopathy NF1 dalam meningkatkan fragilitas vaskular neurofibroma sehingga memicu perdarahan signifikan, serta kompleksitas prognosis pada pasien dengan kombinasi NF1 dan GIST.References
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Copyright (c) 2026 Audrey Aprilia Gonga, Nesa Wike Wilanti, Devy Caroline
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