Genetic disorder with ankylosis of the spine and hyperkeratosis palmoplantaris.
Ankylosing Vertebral Hyperostosis with Tylosis.
One Greek Cypriot family has been described.
Due to the fact that six members of the sibship had tylosis (hyperkeratosis punctata plantaris and palmaris) alone, two independent genetic traits may have been present.
All affected individuals had ankylosing vertebral hyperostosis with ossification of paraspinal ligaments and formation of large osteophytes. Most patients were asymptomatic, but a few complained about low-grade back pain. Tylosis was present in all patients manifesting as punctate hyperkeratosis. One member had mild psoriasis. The osseous manifestations are basically identical to those found in Diffuse Idiopathic Skeletal Hyperostosis (DISH), and some researchers use Beardwell and Forestier Syndrome synonymously (see below in “Other condition to be considered”). However, the onset of DISH (ankylosing hyperostosis, asymmetrical skeletal hyperostosis, or senile ankylosing hyperostosis) before 50 years of age is exceedingly rare, affected individuals in Beardwell’s report were between 18 and 50 years old. DISH is often asymptomatic, but many of the different symptoms and complications reported are dependent on the location of the osteophytes. The symptoms may range from pain and stiffness to stridor and difficulties swallowing. Besides these symptoms, cervical osteophytes have been reported to compress and/or distort the hypopharynx, glottis, subglottic area, and the trachea, resulting in respiratory distress, dysphonia, and difficult airway management (difficult laryngeal mask placement, difficult direct laryngoscopy, and difficult fiberoptic intubation). Furthermore, a higher incidence of diabetes mellitus (DM) and other metabolic disorders has been reported.
Precautions before anesthesia
Check spine mobility, particularly in the neck with regards to difficult airway management and inquire about dysphagia, dyspnea, or neurologic symptoms. If a central neuraxial anesthesia technique is considered, also check lumbar and thoracic spine range of motion and review spine x-rays if available. Depending on the extent of the disease, access for spinal/epidural anesthesia may be very challenging and ultrasound guidance may be helpful for needle guidance. However, if neurologic deficits are already present, regional anesthesia may not be the technique of choice (mainly due to medico-legal issues) and a thorough documentation of the extent of the neurologic symptoms as well as discussion with regards to the advantages and disadvantages with the patient would be required. Due to a higher incidence of DM in these patients, preoperative blood work should include a glucose level.
Most of the individuals described by Beardwell were asymptomatic and implications for anesthesia have not been described. However, several and severe anesthetic complications have been reported in DISH patients, for example, difficult tracheal intubation from deviation and stenosis of the trachea, decreased neck mobility, vocal cord paresis, and in one case emergency tracheostomy ...