Siblings with Acquired Tracheocele: Possible Hereditary Etiopathogenesis?

• Published in: Head & neck pathology (Totowa, N.J.) N.J.), 2021-09, Vol.15 (3), p.999-1003
• Main Authors: Botti, Cecilia, Maccarrone, Francesco, Bernardelli, Giuditta, Lupi, Massimo, Presutti, Livio, Mattioli, Francesco
• Format: Article
• Language: English
• Subjects: Case Reports; Dentistry; Female; Genetic Predisposition to Disease; Hernia; Humans; India; Male; Medicine; Medicine & Public Health; Middle Aged; Oral and Maxillofacial Surgery; Otorhinolaryngology; Pathology; Siblings; Tracheal Diseases
• ISSN: 1936-0568; 1936-055X; 1936-0568
• DOI: 10.1007/s12105-020-01235-y

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.