Craniofacial Fibrous Dysplasia in Pediatric Patients with McCune-Albright Syndrome: A Scoping Review

Anisah Rifda Salsabila; Harmas Yazid Yusuf; Indra Hadikrishna

doi:10.32793/jida.v8i1.1286

Anisah Rifda Salsabila Universitas Padjadjaran
Harmas Yazid Yusuf Departemen Bedah Mulut dan Maksilofasial, Universitas Padjadjaran
Indra Hadikrishna Departemen Bedah Mulut dan Maksilofasial, Universitas Padjadjaran

DOI: https://doi.org/10.32793/jida.v8i1.1286

Abstract

Pendahuluan: Fibrous dysplasia (FD) adalah kelainan tulang langka non-neoplastik yang dikarakterisasikan dengan proliferasi berlebih pada proses pembentukan tulang oleh sel mesenkim. FD dapat timbul sebagai salah satu gejala klinis dari sindroma McCune-Albright (MAS). MAS memiliki triad gejala klinis khas yang terdiri dari FD, makula café-au-lait, dan hiperfungsi endokrinopati. FD dan MAS disebabkan oleh mutasi genetik post-zigotik, sehingga pasien akan lahir dengan penyakit FD. Penelitian ini bertujuan untuk memetakan dan menganalisis pengaruh gejala klinis lain dari MAS terhadap lesi FD kraniofasial pada pasien anak. Metode: Penelitian dilaksanakan menggunakan metode scoping review. Pencarian artikel dilakukan pada database Scopus dan PubMed. Kriteria inklusi: artikel yang membahas mengenai karakteristik lesi FD kraniofasial yang berkaitan dengan MAS pada pasien anak, dipublikasikan dalam jangka tahun 2016-2023, dipublikasikan melalui jurnal internasional, full text, dan free article. Penyaringan sumber literatur dilaksanakan sesuai dengan protokol PRISMA-ScR. Hasil: Delapan artikel ditetapkan sebagai kriteria inklusi. Pengaruh dari uncontrolled GH excess terhadap patogenesis lesi FD dibahas pada seluruh artikel, diantaranya adalah meningkatnya risiko gangguan penglihatan/pendengaran (tujuh artikel), tampilan makrosefali (lima artikel), meningkatnya risiko regrowth pasca operasi (empat artikel), ekspansi lesi FD (empat artikel), dan meningkatnya morbiditas lesi FD (satu artikel). Pembahasan mengenai PP serta koeksistensinya dengan gejala uncontrolled GH excess dibahas pada satu artikel. Hipofosfatemia dibahas pada lima artikel. Simpulan: GH excess dan PP merupakan jenis hiperfungsi endokrinopati yang dapat memperparah patogenesis dan gejala klinis lesi FD. Pada pasien MAS dengan jumlah (skeletal burden) lesi FD yang masif kondisi hipofosfatemia akan meningkatkan risiko fraktur tulang dan rasa nyeri pada lesi FD.

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