| Entry |
|
| Name |
Ectodermal dysplasia, including:
Ectodermal dysplasia, anhidrotic;
Ectodermal dysplasia, hypohidrotic
|
| Description |
These ectodermal dysplasias are caused by defective epithelial-mesenchymal interaction that involves the Ectodysplasin/Edar/Edaradd signaling pathway. Congenital anhidrotic ectodermal dysplasia is a sex-linked disorder characterized by incomplete development of the dermis, resulting in the absence of hair follicles and sweat glands with anodontia in affected males. Hypohidrotic ectodermal dysplasia is milder with sparse hair and sweat glands and oligodontia.
|
| Category |
Skin and connective tissue disease
 |
| Pathway |
| Cytokine-cytokine receptor interaction |
|
| Gene |
|
| Other DBs |
|
| Reference |
|
| Authors |
Priolo M |
| Title |
Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. |
| Journal |
Am J Med Genet A 149A:2003-13 (2009) |
| Reference |
|
| Authors |
Lamartine J |
| Title |
Towards a new classification of ectodermal dysplasias. |
| Journal |
Clin Exp Dermatol 28:351-5 (2003) |