Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: A case report

International Journal of Pediatric Otorhinolaryngology

Volumn 74, Issue 3, 2010, Pages 302-305

  Babić, Irena ^a   Karaman Ilić, Maja ^a   Pustišek, Nives ^a   Sušić, Slobodna ^b   Škarić, Ivančica ^a   Kljenak, Antun ^a   Cikojević, Draško ^c  

^a Croatia   (Croatia)

^b UNIVERSITY OF ZAGREB   (Croatia)

^c UNIVERSITY HOSPITAL SPLIT   (Croatia)

Author keywords

Airway obstruction; Epidermolysis bullosa simplex; Muscular dystrophy laryngotracheal stenosis; Plectin deficiency; Tracheostomy

Indexed keywords

PLECTIN;

ABNORMAL RESPIRATORY SOUND; ANTIGEN DETECTION; ARTICLE; BLISTER; BRONCHOSCOPY; BRONCHUS STENOSIS; CASE REPORT; DISEASE ASSOCIATION; DYSPNEA; ENDOSCOPY; ENDOTRACHEAL INTUBATION; EPIDERMOLYSIS BULLOSA SIMPLEX; EPIGLOTTIS STENOSIS; FAILURE TO THRIVE; FEEDING DISORDER; FOOD ASPIRATION; GASTROSTOMY; HOARSENESS; HOSPITAL READMISSION; HUMAN; HYPOXIA; INFANT; INTENSIVE CARE; INTENSIVE CARE UNIT; LARYNX STENOSIS; MALE; MOUTH MUCOSA; MUCOSA INFLAMMATION; NEWBORN; PRIORITY JOURNAL; PROTEIN DEFICIENCY; RESPIRATORY TRACT DISEASE; SKIN BIOPSY; SUPRAGLOTTIS STENOSIS; TRACHEA STENOSIS; TRACHEOTOMY;

BRONCHI; CHILD; DEGLUTITION DISORDERS; EPIDERMOLYSIS BULLOSA; HUMANS; INFANT, NEWBORN; LARYNGOSTENOSIS; MALE; MOUTH; MUCOUS MEMBRANE; OROPHARYNX; PLECTIN; SPEECH DISORDERS; TRACHEA; TRACHEOSTOMY;

EID: 77149175645     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2009.10.002     Document Type: Article

References (28)

1. Atherton D.J., Mellerio J.E., Denyer J.E. Epidermolysis bullosa. Textbook of Pediatric Dermatology 2006, 1271-1303. Blackwell Publishing, Massachusetts, USA. J. Harper, A. Oranje, N. Prose (Eds.).
2. Marinkovich M.P. Update on inherited bullous dermatoses. Dermatol. Clin. 1999, 17:473-485.
3. Marinkovich M.P., Herron G.S., Khavari P.A. Hereditary epidermolysis bullosa. Fitzpatrick's Dermatology in General Medicine 1999, McGraw-Hill Comp., New York. 5th ed.
4. Fine J.D., Eady R.A., Bauer E.A., Briggaman R.A., Bruckner-Tuderman L., Christiano A. Revised classification system for inherited epidermolysis bullosa: report of the second international consensus meeting on diagnosis and classification of epidermolysis bullosa. J. Am. Acad. Dermatol. 2000, 42:1051-1066.
5. Fine J., Eady R., Bauer E., Bauer J., Bruckner-Tuderman L., Heagerty A. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J. Am. Acad. Dermatol. 2008, 58:931-950.
6. Uitto J., Richard G. Progress in epidermolysis bullosa: genetic classification and clinical implications. Am. J. Med. Genet. 2004, 131C(1):61-74.
7. Mitsuhashi Y., Hashimoto I. Genetic abnormalities and clinical classification of epidermolysis bullosa. Arch. Dermatol. Res. 2003, 295:S29-S33.
8. Wiche G. Role of plectin in cytoskeleton organization and dynamics. J. Cell. Sci. 1998, 111:2477-2486.
9. Takahashi Y., Rouan F., Uitto J., Ishida-Yamamoto A., Lizuka H., Owaribe K., Ishii N., Hashimoto T., et al. Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy. J. Dermatol. Sci. 2005, 37:87-93.
10. Uitto J., Pulkkinen L., Smith F.J.D., McLean W.H.I. Plectin and human genetic disorders of skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp. Dermatol. 1996, 5:237-246.
11. Jonkman M.F. Hereditary skin diseases of hemidesmosomes. J. Dermatol. Sci. 1999, 20:103-121.
12. Holbrook K.A. Extracutaneous epithelial involvement in inherited epidermolysis bullosa. Arch. Dermatol. 1988, 124:726-731.
13. Griffin R.P., Mayou B. The anaesthetic management of patients with dystrophic epidermolysis bullosa. Br. J. Anaesth. 1993, 48:810-815.
14. Wilson F. Epidermolysis bullosa-a rare disease of anaesthetic interest. Br. J. Anaesth. 1959, 31:26-31.
15. Abraham S.S., Wolf E.L. Swallowing physiology of toddlers with long term tracheostomies: a preliminary study. Dysphagia 2000, 15:206-212.
16. Jiang D., Morrison G.A.J. The influence of long-term tracheostomy on speech and language development in children. Int. J. Pediatr. Otorhinolaryngol. 2003, 6571:217-220.
17. Norman V., Louw B., Kritzinger A. Incidence and description of dysphagia in infants and toddlers with tracheostomies: a retrospective review. Int. J. Pediatr. Otorhinolaryngol. 2007, 71:1087-1092.
18. Glossop L.P., Michaels L., Bailey C.M. Epidermolysis bullosa letalis in the larynx causing acute respiratory failure: a case presentation and review of the literature. Int. J. Pediatr. Otorhinolaryngol. 1984, 7:281-288.
19. Schara U., Tücke J., Mortier W., Nüslein T., Rouan F., Pfender E., et al. Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation. Eur. J. Pediatr. 2004, 163:218-222.
20. Thompson J.W., Ahmed A.R., Dudley J.P. Epidermolysis bullosa dystrophica of the larynx and trachea. Ann. Otol. 1980, 89:428-429.
21. Kenna M.A., Stool S.E. Junctional epidermolysis bullosa of the larynx. Pediatrics 1986, 78:172-174.
22. Gonzales C., Roth R. Laryngotracheal involvement in epidermolysis bullosa. Int. J. Pediatr. Otorhinolaryngol. 1989, 17:305-311.
23. Berson S., Ward R.F., Lin A.N., Carter D.M. Junctional epidermolysis bullosa of the larynx: report of a case and literature review. Ann. Otol. Rhinol. Laryngol. 1992, 101:861-865.
24. Fine J.D., Johnson L.B., Weiner M., Suchindran C. Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the National Epidermolysis Bullosa Registry. Laryngoscope 2007, 117:1652-1660.
25. McMillan J.R., Akiyama M., Rouan F., Mellerio J.E., Lane E.B., Leigh I.M., et al. Plectin defects in epidermolysis bullosa simplex with muscular dystrophy. Muscle Nerve 2007, 35:24-35.
26. Mellerio J.E., Smith F.J.D., McMillan J.R., McLean W.H.I., McGrath J.A., Morrison G.A.J., et al. Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. Br. J. Dermatol. 1997, 137:898-906.
27. Kunz M., Rouan F., Pulkkinen L., Hamm H., Jeschke R., Bruckner-Tuderman L., et al. Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene. J. Invest. Dermatol. 2000, 114:376-380.
28. Liu R.M., Pepsin B.C., Jong A.L. Epidermolysis bullosa of the head and neck: a case report of laryngotracheal involvement and 10-year review of cases at the Hospital for Sick Children. J. Otolaryngol. 1999, 28:76-82.