Respiratory problems in patients with ectodermal dysplasia syndromes

American Journal of Medical Genetics, Part A

Volumn 164, Issue 10, 2014, Pages 2478-2481

  Fete, Timothy J ^a  

^a University of Missouri   (United States)

Author keywords

Atopy; Ectodermal dysplasia; Immunodeficiency; Respiratory

Indexed keywords

RECOMBINANT ECTODYPLASIN A; RECOMBINANT PROTEIN; UNCLASSIFIED DRUG;

AGAMMAGLOBULINEMIA; ANKYLOBLEPHARON ECTODERMAL DEFECTS CLEFT LIP SYNDROME; ASTHMA; ATOPY; ATROPHIC RHINITIS; AUTOPSY; BRONCHOPNEUMONIA; CLEFT PALATE; CLINICAL FEATURE; CONDUCTION DEAFNESS; DISEASE ASSOCIATION; DISEASE MODEL; DISEASE PREDISPOSITION; ECTODERMAL DYSPLASIA; EEC SYNDROME; EXTERNAL OTITIS; FOOD ALLERGY; HIGH RISK POPULATION; HOARSENESS; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNE DEFICIENCY; MILIARY TUBERCULOSIS; MORTALITY; MUCUS GLAND; NASOPHARYNGEAL RHABDOMYOSARCOMA; NASOPHARYNX TUMOR; NONHUMAN; OTITIS MEDIA; PREVALENCE; RECURRENT INFECTION; RESPIRATORY TRACT DISEASE; RESPIRATORY TRACT INFECTION; REVIEW; RHABDOMYOSARCOMA; SQUAMOUS CELL CARCINOMA; TRACHEA CARCINOMA; TREATMENT OUTCOME; COMPLICATION; PATHOLOGY; RESPIRATORY SYSTEM; RESPIRATORY TRACT DISEASES; RESPIRATORY TRACT MUCOSA;

CLEFT PALATE; ECTODERMAL DYSPLASIA; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; RESPIRATORY MUCOSA; RESPIRATORY SYSTEM; RESPIRATORY TRACT DISEASES;

EID: 84908225695     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36600     Document Type: Review

References (27)

1. Beahrs JO, Lillington GA, Rosan RC, Russin L, Lindgren JA, Rowley PT. 1971. Anhidrotic ectodermal dysplasia: Predisposition to bronchial disease. Ann Intern Med 74:92-96.
2. Blushke G, Nusken KD, Schneider H. 2010. Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy. Early Hum Dev 86:397-399.
3. Cankaya H, Kosem M, Kiris M, Uner A, Metin A. 2002. Nasopharyngeal rhabdomyosarcoma in a patient with hypohidrotic ectodermal dysplasia syndrome. Auris Nasus Larynx 29:313-316.
4. Casal ML, Mauldin EA, Ryan S, Scheidt JL, Kennedy J, Moore PF, Felsburg PJ. 2005. Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency. Vet Immunol Immunopathol 107:95-104.
5. Casal ML, Lewis JR, Mauldin EA, Tardivel A, Ingold K, Favre M, Paradies F, Demotz S, Gaide O, Schneider P. 2007. Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet 81:1050-1056.
6. Christodoulou J, McDougall PN, Sheffield LJ. 1989. Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. J Med Genet 26:586-589.
7. Clarke A, Phillips DI, Brown R, Harper PS. 1987. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 62:989-996.
8. Clouston HR. 1939. The major forms of hereditary ectodermal dysplasia. Can Med Assoc J 40:1-7.
9. Cole P, Hatef DA, Kaufman Y, Magruder A, Bree A, Friedman E, Sindwani R, Hollier LH. 2009. Facial clefting and oroauditory pathway manifestations in ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome. Am J Med Genet A 149A:1910-1915.
10. de Jager H. 1965. Congenital anhidrotic ectodermal dysplasia: A case report. J Pathol Bacteriol 90:321-322.
11. Feigin RD, Middelkamp JN, Kissane JM, Warren RJ. 1971. Agammaglobulinemia and thymic dysplasia associated with ectodermal dysplasia. Pediatrics 47:143-147.
12. Frix CD, Bronson DM. 1986. Acute miliary tuberculosis in a child with anhidrotic ectodermal dysplasia. Pediatr Dermatol 3:464-467.
13. Mark BJ, Becker BA, Halloran DR, Bree AF, Sindwani R, Fete MD, Motil KJ, Srun SW, Fete TJ. 2012. Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes. Ann Allergy Asthma Immununol 108:435-438.
14. Mauldin EA, Gaide O, Schneider P, Casal ML. 2009. Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia. Am J Med Genet A 149A:2045-2049.
15. Mehta U, Brunworth J, Fete TJ, Sindwani R. 2007a. Head and neck manifestations and quality of life of patients with ectodermal dysplasia. Otolaryngol Head Neck Surg 136:843-847.
16. Mehta U, Brunworth J, Lewis RA, Sindwani R. 2007b. Rhinologic manifestations of ectodermal dysplasia. Am J Rhinol 21:55-58.
17. Melamed J, Rubinstein A, Kadish A, Manabe T, Santarineou M, Einhorn A. 1978. Impairment of cell-mediated immunity in ectodermal dysplasia with aplastic anemia. Helv Paediatr Acta 33:169-176.
18. Obel N, Hansen B, Black FT. 1993. Normal immunologic status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC syndrome). Clin Genet 43:146-149.
19. Sachidananda R, Nagadi A, Dass AA, Kumar BY. 2004. Anhidrotic ectodermal dysplasia presenting as atrophic rhinitis. J Laryngol Otol 118:556-557.
20. Seeliger F, Drogemuller C, Tegtmeier P, Baumgartner W, Distl O, Leeb T. 2005. Ectodysplasin-1 deficiency in a German Holstein bull associated with loss of respiratory mucous glands and chronic rhinotracheitis. J Comp Pathol 132:346-349.
21. Shin JJ, Hartnick CJ. 2004. Otologic manifestations of ectodermal dysplasia. Arch Otolaryngol Head Neck Surg 130:1104-1107.
22. Smythe WR, Bridges ND, Gaynor JW, Nicolson S, Clark BJ, Spray TL. 2000. Bilateral sequential lung transplant for ectodermal dysplasia. Ann Thorac Surg 70:654-656.
23. Taieb A. 1999. Hypothesis: From epidermal barrier dysfunction to atopic disorders. Contact Dermatitis 41:177-180.
24. Vanselow NA, Yamate M, Adams MS, Callies Q. 1970. The increased prevalence of allergic disease in anhidrotic ectodermal dysplasia. J Allergy 45:302-309.
25. Wiesmiller K, Keck T, Lindemann J. 2005. Atrophic rhinitis in a patient with anhidrotic ectodermal dysplasia. Rhinology 43:233-235.
26. Winter SC, Bates GJ. 2002. Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea. J Laryngol Otol 116:742-743.
27. Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, Shapira SK, Farndon PA, Wara DW, Emmal SA, Ferguson BM. 2000. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia Pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 67:1555-1562.