An unusual occurrence: Treacher Collin syndrome with nasal dermoid cyst

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.

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Publication Details

Journal
International Journal of Otorhinolaryngology and Head and Neck Surgery
Published
2024-11-26
DOI
https://doi.org/10.18203/issn.2454-5929.ijohns20243521
Primary Topic
Teratomas and Epidermoid Cysts
Type
article
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An unusual occurrence: Treacher Collin syndrome with nasal dermoid cyst

Shivangi Manglik
International Journal of Otorhinolaryngology and Head and Neck Surgery
Teratomas and Epidermoid Cysts
article

An unusual occurrence: Treacher Collin syndrome with nasal dermoid cyst

Shivangi Manglik
article en

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.

International Journal of Otorhinolaryngology and Head and Neck SurgeryVol. 10(6)
Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences (IN)
Good health and well-being
Openalex Percentile: Top 60%
Teratomas and Epidermoid Cysts
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An unusual occurrence: Treacher Collin syndrome with nasal dermoid cyst — Shivangi Manglik · International Journal of Otorhinolaryngology and Head and Neck Surgery (2024) | TGRS Research Map | TGRS