Split Hand/Foot Malformation with Acquired Middle Ear Cholesteatoma Secondary to Eustachian Tube Dysfunction: A Case...

Cholesteatoma is a rare otologic manifestation in patients with split-hand/foot malformation (SHFM), and previously reported cases have predominantly focused on congenital auricular malformations and external auditory canal atresia rather than acquired middle ear lesions. We herein describe the case of an 8-year-old girl with clinically diagnosed SHFM who presented with left otalgia and persistent purulent otorrhoea. Otoscopic examination revealed middle ear granulation tissue, and high-resolution temporal bone imaging confirmed the presence of middle ear cholesteatoma complicated by tympanic-mastoid bone destruction, semicircular canal fistula, and facial canal erosion. Pure tone audiometry demonstrated a 50 dB air-bone gap indicative of conductive hearing loss. The patient underwent canal wall-down tympanoplasty, which achieved complete cholesteatoma resection and definitive resolution of otorrhea. Considering the patient's concurrent cleft palate and tympanic membrane retraction, the cholesteatoma in this case is most consistent with an acquired lesion secondary to congenital craniofacial malformation-related eustachian tube dysfunction, rather than a novel phenotypic variant of SHFM. Surgical excision remains the standard definitive treatment for such destructive middle ear lesions. This case expands the spectrum of otological complications associated with SHFM and highlights the importance of routine long-term otologic surveillance, early evaluation, and timely surgical intervention in paediatric SHFM patients to prevent progressive bony erosion, hearing impairment, and potentially life-threatening neurotologic complications.