Junctional Epidermolysis Bullosa Associated Laryngeal Stenosis: A Case Report and Review of Literature

Document Type : Case Report

Authors

Otolaryngology Head and Neck Surgery Division, Surgery Department, Rustaq Hospital.

Abstract

Introduction:
Introduction: Junctional Epidermolysis Bullosa (JEB) is a rare subtype of the Epidermolysis Bullosa which itself is a rare genetic disorder. While mucosal involvement of pharynx and oesophagus has been reported, laryngeal involvement is rare.
Case Report:
A 7-month-old male child who was known to have Junctional Epidermolysis Bullosa presented to the emergency department with respiratory distress associated with a stridor which was eventfully found to have multiple level laryngeal stenosis.
Conclusions:
Longitudinal cohort studies are required to determine the long-term outcome and the anticipated behavior of epidermolysis bullosa in patients with laryngeal manifestation to avoid unnecessary surgical interventions.

Keywords

Main Subjects

References

  1. Prodinger C, Reichelt J, Bauer JW, Laimer M. Epidermolysis bullosa: Advances in research and treatment. Exp Dermatol. 2019;28(10):1176–89.
  2. Fantauzzi RS, Maia MO, Cunha FC, Simões RV, Gonçalves DU, Maia AF. Otorhinolaryngological and oesophagal manifestations of epidermolysis bullosa. Rev Bras Otorrinolaringol. 2008 Oct; 74:657–61.
  3. Ida JB, Livshitz I, Azizkhan RG, Lucky AW, Elluru RG. Upper Airway Complications of Junctional Epidermolysis Bullosa. J Pediatr. 2012 Apr 1;160(4):657-661.e1.
  4. Fine JD, Johnson LB, Weiner M, Suchindran C. Tracheolaryngeal Complications of Inherited Epidermolysis Bullosa: Cumulative Experience of the National Epidermolysis Bullosa Registry. The Laryngoscope. 2007;117(9):1652–60.
  5. Lyos AT, Malpica A, Levy ML, Sulek M. Laryngeal Involvement in Epidermolysis Bullosa. Ann Otol Rhinol Laryngol. 1994 Jul 1;103(7):542–6.
  6. Davies H, Atherton DJ. Acute Laryngeal Obstruction in Junctional Epidermolysis Bullosa. Pediatr Dermatol. 1987;4(2):98–101.
  7. Wall AE, Gelbard A, Vinh D, Simmons JC, Donovan DT, Grogan E, et al. Management of laryngotracheal complications of inherited epidermolysis bullosa in the adult: A case series. Otolaryngol Case Rep. 2018 Mar one; 6:14–5.
  8. Gonzalez C, Roth R. Laryngotracheal involvement in epidermolysis bullosa. Int J Pediatr Otorhinolaryngol. 1989 Jul 1;17(3):305–11.
  9. Palinko D, Matievics V, Szegesdi I, Sztano B, Rovo L. Minimally invasive endoscopic treatment for pediatric combined high-grade stenosis as a laryngeal manifestation of epidermolysis bullosa. Int J Pediatr Otorhinolaryngol. 2017 Jan one; 92:126–9.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

  1. Fine JD, Johnson LB, Weiner M, Li KP, Suchindran C. Epidermolysis bullosa and the risk of life-threatening cancers: The National EB Registry experience, 1986-2006. J Am Acad Dermatol. 2009 Feb 1;60(2):203–11.
  2. ROBERTSON SJ, ORRIN E, LAKHAN MK, O’SULLIVAN G, FELTON J, ROBSON A, et al. Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study. Acta Derm Venereol. 2021 Aug 24;101(8):100. 
Iranian Journal of Otorhinolaryngology
Volume 36, Issue 5
September and October 2024
Pages 613-617

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