Malignant Sarcomatous Degeneration of Craniofacial Fibrous Dysplasia.


Journal

The Journal of craniofacial surgery
ISSN: 1536-3732
Titre abrégé: J Craniofac Surg
Pays: United States
ID NLM: 9010410

Informations de publication

Date de publication:
01 Sep 2022
Historique:
received: 04 10 2021
accepted: 26 11 2021
entrez: 2 9 2022
pubmed: 3 9 2022
medline: 8 9 2022
Statut: ppublish

Résumé

Fibrous dysplasia (FD) is an uncommon bone disease characterized by the replacement of normal bone architecture with abnormal fibro-osseous connective tissue. Here, we discuss 2 cases of craniofacial FD, with malignant sarcomatous degeneration - a rare and morbid complication of the disease. Two cases of craniofacial FD with malignant degeneration are presented. In the first, a 68-year-old male with a history of FD presented with acutely worsening left-sided facial pain and V2 and V3 hypoesthesia. Imaging findings suggested a large infratemporal fossa mass with biopsy demonstrating sarcomatous degeneration. Radical craniofacial resection achieved a gross total resection with likely microscopic disease. The patient was unable to tolerate adjuvant chemotherapy or radiation and succumbed to his disease 13 months following surgery.In the second case, a 36-year-old male with McCune-Albright Syndrome and craniofacial FD presented with acutely worsening left-sided headaches and midface hypoesthesia. Imaging revealed a heterogenous and expansile lesion with erosive changes in the left nasal cavity and infratemporal fossa. Pathology was suggestive of low grade sarcomatous degeneration. Given the extensive involvement of the skull base, the tumor was deemed unresectable, and the patient soon died following initiation of chemotherapy. Malignant sarcomatous transformation is a rare and challenging complication of craniofacial FD. Indolent onset, advanced spread at time of presentation, and close relationship with vital neurovascular structures are all hurdles for the treating clinician. The entity poses a diagnostic dilemma, as pathological analysis can be equivocal and may mimic nonmalignant processes, such as locally aggressive FD.

Sections du résumé

BACKGROUND BACKGROUND
Fibrous dysplasia (FD) is an uncommon bone disease characterized by the replacement of normal bone architecture with abnormal fibro-osseous connective tissue. Here, we discuss 2 cases of craniofacial FD, with malignant sarcomatous degeneration - a rare and morbid complication of the disease.
CASE HISTORY METHODS
Two cases of craniofacial FD with malignant degeneration are presented. In the first, a 68-year-old male with a history of FD presented with acutely worsening left-sided facial pain and V2 and V3 hypoesthesia. Imaging findings suggested a large infratemporal fossa mass with biopsy demonstrating sarcomatous degeneration. Radical craniofacial resection achieved a gross total resection with likely microscopic disease. The patient was unable to tolerate adjuvant chemotherapy or radiation and succumbed to his disease 13 months following surgery.In the second case, a 36-year-old male with McCune-Albright Syndrome and craniofacial FD presented with acutely worsening left-sided headaches and midface hypoesthesia. Imaging revealed a heterogenous and expansile lesion with erosive changes in the left nasal cavity and infratemporal fossa. Pathology was suggestive of low grade sarcomatous degeneration. Given the extensive involvement of the skull base, the tumor was deemed unresectable, and the patient soon died following initiation of chemotherapy.
CLINICAL RELEVANCE CONCLUSIONS
Malignant sarcomatous transformation is a rare and challenging complication of craniofacial FD. Indolent onset, advanced spread at time of presentation, and close relationship with vital neurovascular structures are all hurdles for the treating clinician. The entity poses a diagnostic dilemma, as pathological analysis can be equivocal and may mimic nonmalignant processes, such as locally aggressive FD.

Identifiants

pubmed: 36054890
doi: 10.1097/SCS.0000000000008437
pii: 00001665-202209000-00032
pmc: PMC9440299
mid: NIHMS1761807
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Pagination

1787-1790

Subventions

Organisme : Intramural NIH HHS
ID : ZIA DE000649
Pays : United States

Informations de copyright

Copyright © 2021 by Mutaz B. Habal, MD.

Déclaration de conflit d'intérêts

The authors report no conflicts of interest.

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Auteurs

Adnan S Hussaini (AS)

Northwestern University, Feinberg School of Medicine, Department of Otolaryngology-Head and Neck Surgery, Chicago, IL.

Daniel D Swanson (DD)

Georgetown University-School of Medicine.

Peter L Nguy (PL)

Medstar Georgetown University Hospital, Department of Otolaryngology-Head and Neck Surgery, Washington, DC.

Kristen S Pan (KS)

Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.

Luis F de Castro (LF)

Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.

Alison M Boyce (AM)

Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.

Michael T Collins (MT)

Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.

Timothy R DeKlotz (TR)

Medstar Georgetown University Hospital, Department of Otolaryngology-Head and Neck Surgery, Washington, DC.

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