Ectodermal Dysplasias

Chapter 641 Ectodermal Dysplasias



Joseph G. Morelli



Ectodermal dysplasia (ED) is a heterogeneous group of disorders characterized by a constellation of findings involving defects of 2 or more of the following: teeth, skin, and appendageal structures including hair, nails, and eccrine and sebaceous glands. Although more than 150 ectodermal dysplasias have been described, the majority are rare and most have not been genetically defined.



Anhidrotic (Hypohidrotic) Ectodermal Dysplasia


The syndrome known as anhidrotic ectodermal dysplasia manifests as a triad of defects: partial absence (hypohidrosis) or complete absence of sweat glands, anomalous dentition, and hypotrichosis. There are 4 recognized types of anhidrotic ectodermal dysplasia (Table 641-1). The X-linked form is most common.


Table 641-1 FOUR RECOGNIZED TYPES OF ANHIDROTIC ECTODERMAL DYSPLASIA

























TYPE INHERITANCE GENE DEFECT
ED-1 X-linked recessive Ectodysplasin A (EDA)
ED-anhidrotic Autosomal recessive Ectodyplasin A anhidrotic receptor (EDAR)
EDAR-associated death gene (EDARADD)
ED-3 Autosomal dominant EDAR
ED-anhidrotic with immune deficiency
X-linked recessive

Autosomal Dominant
IκK-gamma (NEMO)

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Jun 18, 2016 | Posted by in PEDIATRICS | Comments Off on Ectodermal Dysplasias

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