An unusual occurrence: Treacher Collin syndrome with nasal dermoid cyst

Abstract

Treacher-Collins syndrome (TCS), characterized by autosomal dominant inheritance, affects craniofacial development and presents with diverse clinical manifestations, including facial bone hypoplasia, ear malformations, and ocular abnormalities. The syndrome's association with nasal dermoid cysts is rare and poorly documented in the literature. We present a case report of a 10-year-old male with TCS who presented with a nasal dermoid cyst, a noteworthy and atypical finding within this patient population. The patient exhibited typical features of TCS, including facial asymmetry, malar and mandibular hypoplasia, and microtia. The diagnosis was confirmed through clinical evaluation and diagnostic imaging, which revealed additional anomalies such as conductive hearing loss and absence of the external auditory canal. Surgical excision of the nasal dermoid cyst was performed, utilizing the V-Y advancement glabellar flap technique for closure. This case underscores the importance of comprehensive multidisciplinary care in managing complex conditions like TCS, where treatment strategies must address both medical needs and cosmetic outcomes. Further exploration of rare associations like nasal dermoid cysts in TCS contributes to a broader understanding of the syndrome's phenotypic variability and informs optimal clinical management strategies.