Hypohidrotic or anhidrotic ectodermal dysplasia may be encountered with several different gene mutations.
General clinical features:
(1) hypohidrosis or anhidrosis with heat intolerance
(2) sparse hair (hypotrichosis)
(3) abnormal dentition (hypodontia)
Inheritance: X-linked, autosomal recessive or autosomal dominant
|
Gene
|
Name
|
Chromosome
|
|
EDA1
|
ectodysplasin A
|
Xq12-q13.1
|
|
EDAR
|
ectodysplasin A receptor
|
2q13
|
|
EDARADD
|
EDAR-associated death domain
|
1q42.3
|
Additional findings may include:
(1) periorbital hyperpigmentation
(2) saddle nose deformity
(3) retruded midface
(4) decreased nasal secretions with concretions
(5) raspy voice
(6) fragile-appearing skin
