To the Editor: We read with interest the article by Gispert et al,1 “Basosquamous carcinoma in a patient with Freeman-Sheldon syndrome,” and wished to respectfully offer a commentary on Freeman-Sheldon syndrome or more recently, termed Freeman-Burian syndrome (FBS).2 A craniofacial myopathy, FBS was believed for decades to be a musculoskeletal condition.1, 2, 3, 4 Describing the diagnostic criteria and how the patient satisfied it would be essential, especially for the unfamiliar reader who might not be able to discriminate which features were common, required, and, with a 30% to 60% false-positive diagnosis rate, how the diagnosis was confirmed.1, 2, 3, 4, 5 With embryonic myosin heavy chain gene mutations absent in 7% of clinical FBS presentations, mutation analysis remained nondiagnostic.1,3,4,6 “Feeding difficulties and dysphagia,” especially in infancy and childhood, were confirmatory findings for FBS.1,3, 4, 5 Anesthesia was complicated by deformities and involvement of muscles, causing difficult intubation, limited neck mobility, challenging vascular access, and risk of postoperative pulmonary complications.4 In FBS, a condition sensitive to ibuprofen that could occur with any exaggerated stress for decades has been mistakenly identifed as malignant hyperthermia.1,4
Conflict of interest
None disclosed.
Acknowledgments
The authors thank C.M. Poling for proofreading and M. Pócket and her team for technical assistance. The authors dedicate this work to B.O.O. Poling, a dedicated member of their team and a loving member of her family, who recently passed away, is deeply missed, but leaves a bright legacy of love, fidelity, faith, and service.
Footnotes
Funding sources: None.
Patient consent: Not applicable.
IRB approval status: Not applicable.
References
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