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Updated: Jul 15, 2026

Assessing Signaling Properties of Ectodermal Epithelia During Craniofacial Development
Published on: March 24, 2011
Head and neck manifestations and quality of life of patients with ectodermal dysplasia
Umang Mehta1, Joseph Brunworth, Timothy J Fete
1Department of Otolaryngology--Head and Neck, Saint Louis University School of Medicine, Saint Louis, MO 63110, USA.
Objectives:
Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by deficient ectodermal and mesodermal development. Studies examining resultant otolaryngologic issues are few. The objectives of this study were to delineate the head and neck manifestations and quality of life in EDs.
Study Design And Setting:
For 75 individuals, comprehensive histories were taken and otolaryngologic examinations were performed, and subjects rated their otolaryngologic symptom severity. A validated quality of life instrument (SF-8) was administered.
Results:
The majority of subjects had a diagnosis of hypohidrotic ED (72%). Otolaryngologic conditions included otitis media (28%), cerumen impaction (48%), nasal obstruction/crusting (51%), heat intolerance (76%), and eczema (39%). Physical findings included peg teeth/hypodontia (76%), alopecia (41%), nasal crusting (41%), and saddle nose deformity (44%). Quality of life scores were generally high. Overall, health was rated "good to excellent" by 87 percent.
Conclusion:
Patients with ED frequently experience significant otolaryngologic symptoms, although most patients report a good quality of life.
Significance:
A greater understanding of the otolaryngologic issues in ED should help facilitate diagnosis and improve management.
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