[MIM 135 100]

(Fibrodysplasia ossificans Progressiva, stone man disease) 

Prevalence is estimated at 1/2.106. Autosomal dominant transmission or sporadic cases. Mutation of the ACVR1 gene (2q24.1) leading to overexpression of a protein involved in bone morphogenesis. This produces a muscle and connective tissue disease characterized by outbreaks of heterotopic osteogenesis causing progressive calcification of muscle, fascia and tendons; It is often associated with congenital malformations of thumbs and big toes (congenital valgus hallux) and of the cervical vertebrae. The first zones to be ossified appear during the first decade of life and are located at the level of the paravertebral, cervical and occipital muscles. Ossification is the result of episodes of inflammatory swelling of soft tissues following a local trauma, an IM injection, a biopsy, a viremia, the injection of a local anesthetic. 

The diaphragm, tongue, laryngeal muscles, extraocular muscles, cardiac muscle and smooth muscles are spared.

Cases of neuropathic pain associated with demyelinizing lesions (spotted by MRI) have been described.

Symptomatic treatment: inhibitors of leukotriene (montelukast), high doses of corticosteroids in case of tissue trauma. Death around 40 years of age from respiratory failure or pneumonia 

 (see www.IFOPA.org).

Anesthetic implications: 

difficult intubation (limited mobility of the cervical spine, limited mouth opening). Fiberoptic intubation is  recommended even if the intubation seems easy because direct laryngoscopy can traumatize the temporomandibular joint and cause its ossification. Restrictive lung disease, frequent lung infections. Any tissue trauma can initiate an outbreak of ectopic ossification (IM, IV).  Difficult locoregional anesthesia techniques. It is recommended to administer corticosteroids in the perioperative period to prevent attacks of ossification.

References :  

• Singh A, Ayyalapu A, Keochekian A. 
  Anesthetic management in fibrodysplasia ossificans progressiva: a case report. 
  J Clin Anesth 2003; 15: 211-3.
• Vashisht R, Prosser D. 
  Anesthesia in a child with fibrodysplasia ossificans progressiva. 
  Pediatr Anesth 2006; 16: 684-8.
• Tumolo M., Moscateli A, Silvestri G. 
  Anaesthetic management of a child with fibrodysplasia ossificans progressiva. 
  Br J Anaesth 2006; 97: 701-3.
• Gorji R, Li F, Nastasi R, Stuart S. 
  Fibrodysplasia ossificans progressiva : anesthetic management in complex orthopedic spine procedures. 
  J Clin Anesth 2011; 23: 558-61.
• Santoro AS, Cooper MG, Cheng A. 
  Failed intubation and failed oxygenation in a child. 
  Anaesth Intensive Care 2012; 40: 1056-8
• Kilmartin E, Grunwald Z, Kaplan FS, Nussbaum BL.
  General anesthesia for dental procedures in patients with fibrodysplasia ossificans progressiva: a review of 42 cases in 30 patients. 
  Anesth Analg 2014; 118: 298-301.
• Char DS, Hutchinson HT, Kitterman JA, Gergory GA.
  General anesthesia treatment of propriospional myoclonus in a patient with fibrodysplasia ossificans progressiva.
  A & A Case Reports 2014; 3 : 6-8
• Ojo B, Collins M, Ou H.
  Difficult airway management in a child with fibrodysplasia ossificans progressiva in status asthmaticus.
  J Clin Anesth 2018; 5: 8-9.

Updated: May 2022