@article {DietzP1756, author = {Jasna Dietz and Thomas Kaercher and Anne-Theres Schneider and Theodor Zimmermann and Holm Schneider and Ramsey Johnson}, title = {Involvement of the respiratory and ocular systems in X-linked hypohidrotic ectodermal dysplasia}, volume = {40}, number = {Suppl 56}, elocation-id = {P1756}, year = {2012}, publisher = {European Respiratory Society}, abstract = {Background: X-linked hypohidrotic ectodermal dysplasia (XLHED, ectodysplasin deficiency), the most common of the ectodermal dysplasias, is classically described as affecting hair, sweat glands and dentition. What may be underappreciated is the effect ectodysplasin deficiency has on eccrine glands of the respiratory and ocular systems and the resulting chronic health issues.Methods: 12 male children and 14 male adults with XLHED, age range 6 to 58 years, and 12 healthy controls were enrolled in this study conducted alongside a family conference in Germany (NCT01308333). All subjects were assessed for symptoms and signs of asthma by pulmonary function tests and measurement of exhaled nitric oxide (eNO), and for dry eye disease by investigating the tear film and the ocular surface. Standardized sweat duct counts and EDA genotype were included in correlation analyses.Results: Respiratory symptoms and elevated eNO as a sign of pulmonary inflammation were present in the majority of XLHED subjects, in similar numbers of children and adults. In contrast, ocular symptoms were significantly more common in XLHED adults than in XLHED children. The presence of residual sweat ducts in XLHED subjects, suggestive of partial EDA expression, correlated with milder disease in two subjects with genetic abnormalities in exon 5 encoding the collagen-like domain of ectodysplasin, but not in a third subject with a mutation affecting the TNF homology domain.Conclusions: The high prevalence of asthma and dry eye syndrome in patients as young as 6 years suggests that screening evaluation, regular monitoring and consideration of therapeutic intervention should begin in early childhood.}, issn = {0903-1936}, URL = {https://erj.ersjournals.com/content/40/Suppl_56/P1756}, eprint = {https://erj.ersjournals.com/content/40/Suppl_56/P1756.full.pdf}, journal = {European Respiratory Journal} }