Broad Phenotypic Spectrum of Ectodermal Dysplasias in Childhood and Adolescence
摘要
Ectodermal dysplasias (EDs) represent a clinically and genetically heterogeneous group of diseases characterized by abnormal development of two or more ectodermal-derived structures such as hair, teeth, nails, and sweat and mucous glands [1–3]. The ectodermal-derived structure defects can be associated with more complex malformations of other organs and systems such as skeletal, heart, and external and internal genitalia that outline more complex syndromes [4–6]. The prevalence of the different forms of ED altogether is highly variable in literature due to the continuous expansion of description of different phenotypes.