Document Detail

Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: a case report.
MedLine Citation:
PMID:  20044146     Owner:  NLM     Status:  MEDLINE    
We report a rare case of a child with epidermolysis bullosa simplex (EBS) with plectin deficiency but without muscular dystrophy, with severe lesions of the oral cavity, oropharyngeal, hypopharyngeal, laryngeal, tracheal and bronchial mucosa. Case report and a review of the world literature are used. The literature review revealed only five similar patients with EBS without muscular dystrophy complicated by respiratory involvement. This paper highlights the potentially serious complications of the EB in the form of breathing, swallowing and speech difficulties and describes the specific problems encountered in the treatment of this patient. Epidermolysis bullosa (EB) is a group of severe hereditary diseases, primarily of the skin, but which can also involve the respiratory and gastrointestinal tract mucosa. Respiratory tract involvement is usually only found in certain types of EB. The oral cavity and oropharynx are involved more frequently than the hypopharynx, larynx and trachea. Involvement of laryngeal and tracheal mucosa is generally associated with an increased morbidity and mortality, numerous complications and therapeutic difficulties, and is more common in junctional EB and dystrophic EB than in EBS. We present a rare case of a child with EBS and plectin deficiency with pronounced lesions of respiratory tract mucosa from the oral cavity to the bronchi and even extending into the trachea. Deciding on tracheotomy requires thorough consideration and should not be taken lightly.
Irena Babi?; Maja Karaman-Ili?; Nives Pustisek; Slobodna Susi?; Ivancica Skari?; Antun Kljenak; Drasko Cikojevi?
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-12-30
Journal Detail:
Title:  International journal of pediatric otorhinolaryngology     Volume:  74     ISSN:  1872-8464     ISO Abbreviation:  Int. J. Pediatr. Otorhinolaryngol.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-02-15     Completed Date:  2010-04-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8003603     Medline TA:  Int J Pediatr Otorhinolaryngol     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  302-5     Citation Subset:  IM    
Copyright Information:
Copyright 2009 Elsevier Ireland Ltd. All rights reserved.
ENT Division, Department of Pediatric Surgery, Zagreb University Children's Hospital, Klai?eva 16, Zagreb, Croatia.
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MeSH Terms
Bronchi / metabolism,  pathology*,  surgery
Deglutition Disorders / epidemiology,  metabolism
Epidermolysis Bullosa / complications,  pathology*,  surgery
Infant, Newborn
Laryngostenosis / complications*,  surgery
Mouth / metabolism,  pathology*,  surgery
Mucous Membrane / metabolism,  pathology
Oropharynx / metabolism,  pathology*,  surgery
Plectin / deficiency*
Speech Disorders / epidemiology
Trachea / metabolism,  pathology*,  surgery
Reg. No./Substance:

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