Fibrous dysplasia

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sunny Kumar MD [2]

Overview

Fibrous dysplasia [FD] is a disorder of bones which may occur with or without endocrinological and skin disorders. It may cause bony pain, deformity, fracture and / or entrapment of nerves, It is basically the acquired mis-sense mutation of gene coding for the α-subunit of the stimulatory G-protein, Gs, in the guanine nucleotide binding, alpha stimulating (GNAS) complex locus in chromosome 20q13. It leads to immature or poor differentiation of body tissue at the time of ossification and replacement of bone by fibrous tissue. Diagnosis depends on radiology and biopsic specimen.

Historical Perspective

  • Fibrous dysplasia was first observed in bone radiography by Von Recklinghausen in 1891.[1]
  • It was then entitled as separate entity by american pathologist Dr. Louis Lichtenstein in 1938 as fibrous dysplasia polyostotic.
  • In 1942, Dr Lichtenstein and Dr. Jaffe together labeled syndrome named McCune-Albright syndrome (fibrous dysplasia-café au lait spots-endocrine dysfunction) or Mazabraud syndrome (fibrous dysplasia-myxomas). 

Classification

  • Fibrous dysplasia may be classified according to number of bony sites involved into two groups:
  • One bone: monostotic fibrous dysplasia
  • Multiple bones: polyostotic fibrous dysplasia

Pathophysiology

The pathophysiology of fibrous dysplasia is based on mechanism of G protein mutation.[4][5][6][7]

Genetics

Gross pathology

  • Following are characteristic gross pathology findings of fibrous dysplasia:

Microscopic histopathological analysis

Causes

Differentiating Fibrous dyspepsia from other Diseases

  • Fibrous dysplasia must be differentiated from other diseases that cause bone pain, deformity, and extra-skeletal involvement, such as:
Disease Bone involvement Bone pain Fever Fractures Mechanism ALK level Diagnosis
Ossifying sarcoma Single Yes No Yes Neoplasm Normal Radiology and biopsy
Paget's disease Multiple Yes No Yes Malfunction of osteoblasts High Biopsy
Osteosarcoma Single Yes No Yes Neoplasm Normal Radiology and biopsy
Cherubism Single Yes No No Malfunction of osteoblasts High Radiology and biopsy
Hyperparathyroidism Multiple Yes Yes Yes High PTH Normal Hormone level
Solitary endocytosis Single Yes No No Neoplasm Normal Radiology and biopsy
Osteoblastoma Single Yes No Yes Neoplasm High Radiology and biopsy
Osteomyelitis Single Yes Yes No Infection Normal Radiology and biopsy
Brodie's abscess Single Yes Yes No Infection Normal Radiology and biopsy

Epidemiology and Demographics

  • The prevalence and incidence of fibrous dysplasia is not known exactly.[8][9]
  • FD is more commonly found in age group from 3 -15 years of life.
  • Polyostotic does not become symptomatic before age 10 years.
  • Monostotic is asymptomatic until age of 20-30 years of life.
  • FD affects men and women equally.
  • There is no racial predilection for FD.

Risk Factors

Screening

Natural History, Complications and Prognosis

  • The majority of patients with FD remain asymptomatic for the first decade of life.
  • Early clinical features include bone pain, bony deformity, fever, and pathological fractures.
  • Patients with fibrous dysplasia might develop skin/endocrine/malignancies depending on the variant.
  • Common complications of FD include neurological deficit, endocrine abnormality, and in rare cases soft tissue tumors.
  • Prognosis is generally good, and the patients with polyostotic form may have frequent fractures.

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

  • Patients with FD usually appear normal unless there is any bony deformity or skin involvement
  • Physical examination may be remarkable according to the classification of disease:
Monostotic
Polyostotic
Craniofacial
McCune-Albright syndrome

Laboratory Findings

Electrocardiogram

X-ray

  • Radiology is the imaging modality of choice for FD.
  • On x-ray, FD is characterized by:

Echocardiography or Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Incidental finding
 
 
 
Dull, aching pain and subsequent radiographs
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Full-body 99Tc-methylene diphosphonate bone scan
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Typical thinning of the cortex without periosteal reaction with a matrix appearance
Ground glass
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
If Yes
no further studies
 
 
 
 
If no
Bone Biopsy
 
 
 
 
 
 

Treatment

Treatment of FD is mostly symptomatic and it can be either medical or surgical depending on severity and presentation of disease.[15][16][17][18][19]

Medical Therapy

  • The mainstay of therapy for FD is bisphosphonates, which help in improving pain, slow down process of bone turnover, and also lower the fracture risk factor.
  • Bisphosphonates acts by inhibiting osteoclasts.
  • In the absence of a fracture or symptoms, the follow-up for a child with FD consists of twice yearly clinical evaluations with special attention to limited range of motion, obvious angular deformity, and limb length discrepancy.

Surgery

  • Conventional surgical procedures can only be performed for patients with symptomatic FD patients in conjugation of over all evaluation of disease and the age of child.
  • Adult monostotic lesion may be observed with subsequent radiography if it is not symptomatic. surgical removal and grafting the defect is considered for patients who have symptoms or excessively growing deformity or when disease produces deficit.
  • Child age group may have skin lesions and endocrinopathies which needs prompt attention and surgery will be delayed until bones are mature and in case of neurological defect or significant deformity surgery is advised immediately.

Primary Prevention

Secondary Prevention

References

  1. Cicek AF, Kilinc M, Safali M, Gunhan O (2018). "Lamellation in fibrous dysplasia: A clinicopathologic study". Histol Histopathol: 11991. doi:10.14670/HH-11-991. PMID 29675824.
  2. Tessaris D, Boyce AM, Zacharin M, Matarazzo P, Lala R, de Sanctis L; et al. (2018). "Growth hormone (GH) - insulin like growth factor 1 (IGF-1) axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome". Clin Endocrinol (Oxf). doi:10.1111/cen.13722. PMID 29672904.
  3. Berglund JA, Tella SH, Tuthill KF, Kim L, Guthrie LC, Paul SM; et al. (2018). "Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated with Curve Progression and Effects of Bisphosphonates". J Bone Miner Res. doi:10.1002/jbmr.3446. PMID 29669167.
  4. Utriainen P, Valta H, Björnsdottir S, Mäkitie O, Horemuzova E (2018). "Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort". Front Endocrinol (Lausanne). 9: 96. doi:10.3389/fendo.2018.00096. PMC 5863549. PMID 29599748.
  5. Rivera-Rosado E, Beaton-Comulada D, Hernandez-Ortiz E, Marrero-Ortiz PV (2018). "Bilateral Tibial Fibrous Dysplasia in a Pediatric Patient treated with Intramedullary Nailing". P R Health Sci J. 37 (1): 58–61. PMID 29547687.
  6. Innamorati G, Wilkie TM, Kantheti HS, Valenti MT, Dalle Carbonare L, Giacomello L; et al. (2018). "The curious case of Gαs gain-of-function in neoplasia". BMC Cancer. 18 (1): 293. doi:10.1186/s12885-018-4133-z. PMC 5856294. PMID 29544460.
  7. Fournel L, Rapicetta C, Fraternali A, Bellafiore S, Paci M, Lococo F (2018). "Fibrous Dysplasia of the Rib Mimicking a Malignant Bone Tumor at SPECT/CT with 99mTc-MDP". Clin Nucl Med. 43 (5): 346–348. doi:10.1097/RLU.0000000000002015. PMID 29517538.
  8. 8.0 8.1 Yepes JF (2017). "Dental Manifestations of Pediatric Bone Disorders". Curr Osteoporos Rep. 15 (6): 588–592. doi:10.1007/s11914-017-0409-5. PMID 28965204.
  9. 9.0 9.1 Gupta D, Garg P, Mittal A (2017). "Computed Tomography in Craniofacial Fibrous Dysplasia: A Case Series with Review of Literature and Classification Update". Open Dent J. 11: 384–403. doi:10.2174/1874210601711010384. PMC 5543691. PMID 28839487.
  10. Ogul H, Keskin E (2018). "Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion". J Craniofac Surg. doi:10.1097/SCS.0000000000004453. PMID 29485574.
  11. Karaca A, Malladi VR, Zhu Y, Tafaj O, Paltrinieri E, Wu JY; et al. (2018). "Constitutive stimulatory G protein activity in limb mesenchyme impairs bone growth". Bone. 110: 230–237. doi:10.1016/j.bone.2018.02.016. PMC 5878747. PMID 29471062.
  12. Akashi M, Matsuo K, Shigeoka M, Kakei Y, Hasegawa T, Tachibana A; et al. (2017). "A Case Series of Fibro-Osseous Lesions of the Jaws". Kobe J Med Sci. 63 (3): E73–E79. PMC 5826023. PMID 29434178.
  13. Ostertag H, Glombitza S (2018). "[The activating GNAS mutation : A survey of fibrous dysplasia, its associated syndromes, and other skeletal and extraskeletal lesions]". Pathologe. 39 (2): 146–153. doi:10.1007/s00292-018-0417-y. PMID 29488004.
  14. Mierzwiński J, Kosowska J, Tyra J, Haber K, Drela M, Paczkowski D; et al. (2018). "Different clinical presentation and management of temporal bone fibrous dysplasia in children". World J Surg Oncol. 16 (1): 5. doi:10.1186/s12957-017-1302-5. PMC 5769533. PMID 29335001.
  15. Simm PJ, Biggin A, Zacharin MR, Rodda CP, Tham E, Siafarikas A; et al. (2018). "Consensus guidelines on the use of bisphosphonate therapy in children and adolescents". J Paediatr Child Health. 54 (3): 223–233. doi:10.1111/jpc.13768. PMID 29504223.
  16. Gresky J, Kalmykov A, Berezina N (2018). "Benign fibro-osseous lesion of the mandible in a Middle Bronze Age skeleton from Southern Russia". Int J Paleopathol. 20: 90–97. doi:10.1016/j.ijpp.2017.09.001. PMID 29496222.
  17. Ostertag H, Glombitza S (2018). "[The activating GNAS mutation : A survey of fibrous dysplasia, its associated syndromes, and other skeletal and extraskeletal lesions]". Pathologe. 39 (2): 146–153. doi:10.1007/s00292-018-0417-y. PMID 29488004.
  18. Ahmad M, Gaalaas L (2018). "Fibro-Osseous and Other Lesions of Bone in the Jaws". Radiol Clin North Am. 56 (1): 91–104. doi:10.1016/j.rcl.2017.08.007. PMID 29157551.
  19. Gatimel N, Moreau J, Parinaud J, Léandri RD (2017). "Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017". Andrology. 5 (5): 845–862. doi:10.1111/andr.12389. PMID 28692759.



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