Respiratory problems in patients with ectodermal dysplasia syndromes

• Published in: American journal of medical genetics. Part A Vol. 164A; no. 10; pp. 2478 - 2481
• Main Author: Fete, Timothy
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01.10.2014; Wiley Subscription Services, Inc
• Subjects: Appendages; Atopy; Cleft lip/palate; Cleft Palate - pathology; Dysplasia; Ectoderm; ectodermal dysplasia; Ectodermal Dysplasia - complications; Ectodermal Dysplasia - pathology; Glands; Humans; Immunodeficiency; Immunologic Deficiency Syndromes - pathology; Mesoderm; Nails (Anatomy); respiratory; Respiratory diseases; Respiratory Mucosa - pathology; Respiratory System - pathology; Respiratory tract; Respiratory Tract Diseases - etiology; Respiratory Tract Diseases - pathology; Skin; Teeth; atopy; ectodermal dysplasia; immunodeficiency; respiratory
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.36600

The ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by a deficiency of ectoderm‐ and mesoderm‐derived tissues and appendages, particularly hair, skin, teeth, and nails. Many of these disorders are associated with a greater risk of respiratory disease than found in the general population. There are no published papers that comprehensively describe these findings and the possible etiologies. Patients have been reported with dramatic decrease in mucous glands in the respiratory tract. Anatomic defects, including cleft palate, that predispose to respiratory infection, are associated with several of the ED syndromes. Atopy and immune deficiencies have been shown to have a higher prevalence in ED syndromes. Clinicians who care for patients affected by ED syndromes should be aware of the potential respiratory complications, and consider evaluation for structural anomalies, atopy and immunodeficiency in individuals with recurrent or chronic respiratory symptoms. © 2014 Wiley Periodicals, Inc.