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Siblings with Acquired Tracheocele: Possible Hereditary Etiopathogenesis?

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Abstract

Tracheocele is a herniation of the tracheal mucosa through a defect in the tracheal wall. Familiar and/or genetical factors have never been taken into consideration in the etiopathogenesis of acquired tracheocele. Acquired tracheocele occurred in a brother and a sister from India. CT scan of the neck showed an air cyst next to the right tracheal wall. They underwent surgical excision through a transverse cervical incision. Histopathology of the lesion revealed a fibrous sac lined by a pseudostratified columnar respiratory epithelium in both patients. They had no recurrence of tracheocele at 12 months follow up. Genetic counseling did not evidence any significative associated abnormalities. No previous cases of familiar acquired tracheocele have been reported in the literature. Given the rarity of the lesion occurring in more than one member of a family, hereditary factors could be supposed as contributing factors in the etiopathogenesis of acquired tracheocele.

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This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

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Authors and Affiliations

  1. Department of Otolaryngology Head Neck Surgery, University Hospital of Modena, Via Largo del Pozzo, 41125, Modena, Italy

    Cecilia Botti, Francesco Maccarrone, Livio Presutti & Francesco Mattioli

  2. Clinical and Experimental Medicine, University of Modena and Reggio Emilia, Modena, Italy

    Cecilia Botti

  3. Department of Pathology, University Hospital of Modena, Modena, Italy

    Giuditta Bernardelli & Massimo Lupi

Authors
  1. Cecilia Botti
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  2. Francesco Maccarrone
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  3. Giuditta Bernardelli
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  4. Massimo Lupi
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  5. Livio Presutti
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  6. Francesco Mattioli
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Correspondence to Francesco Maccarrone.

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Botti, C., Maccarrone, F., Bernardelli, G. et al. Siblings with Acquired Tracheocele: Possible Hereditary Etiopathogenesis?. Head and Neck Pathol 15, 999–1003 (2021). https://doi.org/10.1007/s12105-020-01235-y

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  • DOI: https://doi.org/10.1007/s12105-020-01235-y

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