{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T09:05:42Z","timestamp":1784538342064,"version":"3.55.0"},"reference-count":0,"publisher":"University of the Philippines Manila","issue":"13","license":[{"start":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T00:00:00Z","timestamp":1784073600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Med Philipp"],"abstract":"<jats:p>Background. Neurofibromatosis Type 1 (NF1) is a genetic disorder with a wide range of clinical manifestations,\u00a0including skin changes, behavioral issues, and skeletal deformities. Despite being relatively common, there is a lack\u00a0of local studies in the Philippines.\nObjective. This study aimed to investigate profiles of individuals with NF1 seen at the Philippine General Hospital\u00a0and their outcomes following various interventions.\nMethods. A review of medical records of all patients with confirmed NF1, identified through databases from the\u00a0Institute of Human Genetics and the Philippine General Hospital from 1999 to 2022, was done. Demographic, clinical,\u00a0treatment, and outcome data were reviewed and evaluated. Data gathered included clinical profile, interventions,\u00a0and survival. Additionally, for patients with congenital pseudarthrosis and NF1, radiologic findings, treatments, and\u00a0functional outcomes such as union maintenance and refracture were evaluated.\nResults. The mean age of 50 patients with NF1 at\u00a0initial evaluation was 10.8 \u00b1 5.5 years, with an average\u00a0symptom onset at 1.9 \u00b1 3.7 years. Common features\u00a0included caf\u00e9-au-lait spots (100%), axillary and inguinal\u00a0freckling (17%), and cutaneous (15%) or plexiform (11%)\u00a0neurofibromas. Interventions noted included surgery for\u00a0intracranial tumors and multiple surgeries for congenital\u00a0pseudarthrosis of the tibia. Six patients with congenital\u00a0pseudarthrosis of the tibia had a median age of\u00a0presentation at 0.5 years, with most requiring repeated\u00a0surgical interventions and receiving bisphosphonate\u00a0treatment for better bone union outcomes.\nConclusion. A multidisciplinary approach is necessary\u00a0to address the varied clinical manifestations of NF1,\u00a0including biological, biomechanical, psychological, and\u00a0developmental issues. Standardization and adherence\u00a0to established multidisciplinary protocols are necessary\u00a0to achieve optimal outcomes.<\/jats:p>","DOI":"10.47895\/amp.v60i13.13515","type":"journal-article","created":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T08:31:39Z","timestamp":1784536299000},"source":"Crossref","is-referenced-by-count":0,"title":["Profile and Outcomes of Neurofibromatosis Type 1 (NF1) Patients in a Tertiary Government Hospital in the Philippines: A Retrospective Descriptive Study"],"prefix":"10.47895","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4254-3455","authenticated-orcid":false,"given":"Maria Melanie Liberty B.","family":"Alcausin, MD","sequence":"first","affiliation":[{"name":"Clinical Genetics and Research Unit, Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"},{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5686-8998","authenticated-orcid":false,"given":"Christine Mae S.","family":"Avila, MD","sequence":"additional","affiliation":[{"name":"Clinical Genetics and Research Unit, Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5414-7030","authenticated-orcid":false,"given":"Ebner Bon G.","family":"Maceda, MD","sequence":"additional","affiliation":[{"name":"Clinical Genetics and Research Unit, Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"},{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose Mari Gerald O.","family":"Arpilleda, MD","sequence":"additional","affiliation":[{"name":"De La Salle University Medical Center, Cavite, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gracia Cielo E.","family":"Balce, MD","sequence":"additional","affiliation":[{"name":"College of Medicine, University of the Philippines Manila, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"27557","published-online":{"date-parts":[[2026,7,15]]},"container-title":["Acta Medica Philippina"],"original-title":[],"link":[{"URL":"https:\/\/actamedicaphilippina.upm.edu.ph\/index.php\/acta\/article\/download\/13515\/7201","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/actamedicaphilippina.upm.edu.ph\/index.php\/acta\/article\/download\/13515\/7201","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T08:31:39Z","timestamp":1784536299000},"score":1,"resource":{"primary":{"URL":"https:\/\/actamedicaphilippina.upm.edu.ph\/index.php\/acta\/article\/view\/13515"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,15]]},"references-count":0,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2026,7,15]]}},"URL":"https:\/\/doi.org\/10.47895\/amp.v60i13.13515","relation":{},"ISSN":["2094-9278","0001-6071"],"issn-type":[{"value":"2094-9278","type":"electronic"},{"value":"0001-6071","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7,15]]}}}