BACKGROUND: Ectodermal dysplasia (ED) syndromes are a diverse group of disorders that affect multiple ectodermally derived tissues. Small studies and case reports suggest an increase in atopy and primary immunodeficiencies (PIDs) among patients with ED syndromes. OBJECTIVE: To determine the prevalence of clinical symptoms suggestive of atopy or immunodeficiency among a large cohort of children with ED syndromes. METHODS: A 9-page questionnaire was mailed to families who were members of the National Foundation for Ectodermal Dysplasias. The surveys were completed by parents of children younger than 18 years with a diagnosis of an ED syndrome or carrier state. Portions of the questionnaire were adapted from previously validated questionnaires developed by the International Study of Asthma and Allergies in Childhood (ISAAC). RESULTS: We received 347 completed questionnaires (41%). When compared with the 13- to 14-year-old children surveyed by ISAAC, we found both all-aged and age-matched children with ED syndromes, respectively, had significantly higher rates of asthma (32.2% and 37.2% vs 16.4%), rhinitis symptoms (76.1% and 78.3% vs 38.9%), and eczema (58.9% and 48.9% vs 8.2%). The prevalence of physician-diagnosed food allergies (20.7%) and PIDs (6.1%) in these ED patients also exceeded known rates in the general pediatric population. CONCLUSION: This large-scale, retrospective study demonstrates a greater reported prevalence of symptoms suggestive of atopic disorders and PIDs among children with ED syndromes than the general pediatric population. A combination of genetic and environmental factors in ED syndromes may contribute to breaches of skin and mucosal barriers, permitting enhanced transmission and sensitization to irritants, allergens, and pathogens.
BACKGROUND:Ectodermal dysplasia (ED) syndromes are a diverse group of disorders that affect multiple ectodermally derived tissues. Small studies and case reports suggest an increase in atopy and primary immunodeficiencies (PIDs) among patients with ED syndromes. OBJECTIVE: To determine the prevalence of clinical symptoms suggestive of atopy or immunodeficiency among a large cohort of children with ED syndromes. METHODS: A 9-page questionnaire was mailed to families who were members of the National Foundation for Ectodermal Dysplasias. The surveys were completed by parents of children younger than 18 years with a diagnosis of an ED syndrome or carrier state. Portions of the questionnaire were adapted from previously validated questionnaires developed by the International Study of Asthma and Allergies in Childhood (ISAAC). RESULTS: We received 347 completed questionnaires (41%). When compared with the 13- to 14-year-old children surveyed by ISAAC, we found both all-aged and age-matched children with ED syndromes, respectively, had significantly higher rates of asthma (32.2% and 37.2% vs 16.4%), rhinitis symptoms (76.1% and 78.3% vs 38.9%), and eczema (58.9% and 48.9% vs 8.2%). The prevalence of physician-diagnosed food allergies (20.7%) and PIDs (6.1%) in these EDpatients also exceeded known rates in the general pediatric population. CONCLUSION: This large-scale, retrospective study demonstrates a greater reported prevalence of symptoms suggestive of atopic disorders and PIDs among children with ED syndromes than the general pediatric population. A combination of genetic and environmental factors in ED syndromes may contribute to breaches of skin and mucosal barriers, permitting enhanced transmission and sensitization to irritants, allergens, and pathogens.
Authors: Jordan S Orange; Scott R Brodeur; Ashish Jain; Francisco A Bonilla; Lynda C Schneider; Roberto Kretschmer; Samuel Nurko; Wendy L Rasmussen; Julia R Köhler; Stephen E Gellis; Betsy M Ferguson; Jack L Strominger; Jonathan Zonana; Narayanaswamy Ramesh; Zuhair K Ballas; Raif S Geha Journal: J Clin Invest Date: 2002-06 Impact factor: 14.808
Authors: Jordan S Orange; Ofer Levy; Scott R Brodeur; Konrad Krzewski; Rene M Roy; Julie E Niemela; Thomas A Fleisher; Francisco A Bonilla; Raif S Geha Journal: J Allergy Clin Immunol Date: 2004-09 Impact factor: 10.793
Authors: Mônica Fernandes Gomes; Luigi Giovanni Bernardo Sichi; Lilian Chrystiane Giannasi; José Benedito Oliveira Amorim; João Carlos da Rocha; Cristiane Yumi Koga-Ito; Miguel Angel Castillo Salgado Journal: Case Rep Dent Date: 2018-03-20
Authors: Marc Weisshaar; Federico Mele; Ibtihal Benhsaien; Karim Dorgham; Jing Han; Aziz Bousfiha; Laurent Abel; Stuart G Tangye; Jean-Laurent Casanova; Jacinta Bustamante; Federica Sallusto; Rui Yang; Carys A Croft; Samuele Notarbartolo; Jérémie Rosain; Paul Bastard; Anne Puel; Bernhard Fleckenstein; Laurie H Glimcher; James P Di Santo; Cindy S Ma; Guy Gorochov Journal: J Exp Med Date: 2021-06-23 Impact factor: 14.307