Hyaline Fibromatosis Syndrome (HFS) is a rare autosomal recessive disorder caused by mutations in the ANTXR2 gene. It is characterized by abnormal deposition of hyaline material in skin, mucosa, joints, and other tissues. Associated clinical features such as gingival hyperplasia, limited mouth opening and neck mobility, temporomandibular joint contractures and oropharyngeal mucosal lesions frequently contribute to difficult airway. We describe a 33-year-old female with HFS who had undergone multiple surgeries for recurrent skin nodules. Each anesthesia was marked by difficult intubation with multiple attempts, prompting a referral to our institution's specialized Difficult Airway Clinic (DAC). A systematic airway assessment demonstrated dysmorphic facial features with hypertrophic scars, marked trismus, Mallampati III, restricted neck extension and nasopharyngeal lesions. A comprehensive airway management plan was formulated for the patient. Our case highlights the importance of a DAC in documenting airway abnormalities and formulating a standardized approach. Preoperative airway evaluation and planning are critical for safe airway management in HFS.
Khan et al. (Sun,) studied this question.