Craniofacial fibrous dysplasia: case report of uncommon genetic defect in young adult
DOI:
https://doi.org/10.12775/JEHS.2025.80.59957Keywords
craniofacial fibrous dysplasia, fibrous dysplasia, rare bone disease, bone neoplasms, McCune-Albright syndromeAbstract
Fibrous dysplasia is uncommon genetic defect in which normal bone and marrow are replaced with fibro-osseous tissue, leading to bone deformities, pain fractures and functional impairments. The case presents 27 years old women that was diagnosed with sepsis in the course of catheter-related infection and treated at nephrology department. She was diagnosed with chronic kidney disease that started during pregnancy and originated due to steroid-resistant nephrotic syndrome. During the hospitalization, a CT scan of the head was performed because of facial deformation. Based on CT scans of head, craniofacial fibrous dysplasia was confirmed.
References
1. Szymczuk V, Taylor J, Boyce AM. Craniofacial Fibrous Dysplasia: Clinical and Therapeutic Implications. Curr Osteoporos Rep. 2023 Apr;21(2):147-153. doi: 10.1007/s11914-023-00779-6.
2. Kim DY. Current concepts of craniofacial fibrous dysplasia: pathophysiology and treatment. Arch Craniofac Surg. 2023 Apr;24(2):41-51. doi: 10.7181/acfs.2023.00101
3. Burke AB, Collins MT, Boyce AM. Fibrous dysplasia of bone: craniofacial and dental implications. Oral Dis. 2017 Sep;23(6):697-708. doi: 10.1111/odi.12563.
4. Javaid MK, Boyce A, Appelman-Dijkstra N, Ong J, Defabianis P, Offiah A, Arundel P, Shaw N, Pos VD, Underhil A, Portero D, Heral L, Heegaard AM, Masi L, Monsell F, Stanton R, Dijkstra PDS, Brandi ML, Chapurlat R, Hamdy NAT, Collins MT. Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium. Orphanet J Rare Dis. 2019 Jun 13;14(1):139. doi: 10.1186/s13023-019-1102-9. Erratum in: Orphanet J Rare Dis. 2019 Nov 21;14(1):267. doi: 10.1186/s13023-019-1255-6.
5. Boyce AM, Collins MT. Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation. Endocr Rev. 2020 Apr 1;41(2):345–70. doi: 10.1210/endrev/bnz011.
6. Bouet B, Schlund M, De Massary M, Nicot R. Craniofacial fibrous dysplasia: Systematic review of facial management. J Stomatol Oral Maxillofac Surg. 2023 Dec;124(6 Suppl 2):101660. doi: 10.1016/j.jormas.2023.101660.
7. Spencer T, Pan KS, Collins MT, Boyce AM. The Clinical Spectrum of McCune-Albright Syndrome and Its Management. Horm Res Paediatr. 2019;92(6):347-356. doi: 10.1159/000504802
8. Yang HH, Wu CH, Tsai HL, Chang JW. Fibrous dysplasia in maxilla in a patient on hemodialysis with severe secondary hyperparathyroidism. Korean J Intern Med. 2022 May;37(3):695-696. doi: 10.3904/kjim.2021.473.
9. Turcu AF, Clarke BL. Fibrous dysplasia of bone associated with primary hyperparathyroidism. Endocr Pract. 2013 Mar-Apr;19(2):226-30. doi: 10.4158/EP12301.OR.
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Copyright (c) 2025 Konrad Haraziński , Weronika Goliat, Oliwia Sysło, Izabela Jastrzębska, Nikola Rubik, Maksym Gmur, Michał Gajewski, Barbara Sławińska, Zuzanna Błecha, Nicole Maryniak
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