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CC BY 4.0 · Arch Plast Surg 2025; 52(06): 336-340
DOI: 10.1055/a-2665-2209
Pediatric/Craniomaxillofacial/Head & Neck
Case Report

Very Rare Case of Hyaline Fibromatosis Syndrome Successfully Treated with Surgical Excision and Review of Literature

Authors

  • Yong Uk Jung 

    1   Department of Plastic and Reconstructive Surgery, Seoul National University Hospital, Jongno-gu, Seoul, South Korea

  • Byung-jun Kim 

    1   Department of Plastic and Reconstructive Surgery, Seoul National University Hospital, Jongno-gu, Seoul, South Korea

  • Eun-Hee Kim 

    2   Department of Anesthesiology and Pain Medicine, Seoul National University Hospital, Jongno-gu, Seoul, South Korea
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Abstract

Hyaline fibromatosis syndrome (HFS) is a rare autosomal recessive disorder caused by ANTXR2 gene mutations, resulting in abnormal deposition of hyaline material in connective tissues. Fewer than 100 cases have been documented worldwide. Patients often present with painful joint contractures, gingival hyperplasia, cutaneous nodules, and restricted mobility. Here, we report a 7-year-old boy with HFS who underwent surgical management for near-total obstruction of the external ear canal and multiple ulcerative lesions. A multidisciplinary approach facilitated successful mass excision and reconstruction with a split-thickness skin graft. Postoperative evaluations showed stable wound healing at 6 months, allowing consideration of further surgeries. This case highlights the importance of comprehensive genetic assessment, careful preoperative planning, and individualized surgical intervention, as well as the critical role of nutritional support to optimize wound healing and clinical outcomes in HFS.

Keywords

hyaline fibromatosis syndrome - skin graft - reconstruction - review of literature

Authors' Contributions

Y.U.J.: Conceptualization, data curation, formal analysis, investigation, methodology, resources, visualization, writing—original draft.

B-j.K.: Conceptualization, project administration, supervision, validation, writing—review and editing.

E-H.K.: Data curation, investigation, supervision, validation, writing—original draft, writing—review and editing.


Ethical Approval

IRB approval was not required.


Patient Consent

The patient and parents provided written informed consent for the use of the patient's medical records and photographs in this case report.




Publication History

Received: 11 March 2025

Accepted: 14 July 2025

Accepted Manuscript online:
25 July 2025

Article published online:
20 November 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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