By Disease Name > Anhidrotic Ectodermal Dysplasia

Ectodermal Dysplasia

Top  Previous  Next
•(anhidrotic) skin, hair, and teeth vs. (hydrotic)skin, hair, and nails

Anhidrotic ectodermal dysplasia

•X-linked recessive (therefore almost all men)
•triad:  sparse hair, anodontia (partial or total; peg teeth), anhidrosis (or hypohidrosis)
•normal nails
•diagnosis:  biopsy of palmar skin confirms that eccrine glands are absent or rudimentary
•if unsure, EM of hair shaft shows longitudinal groove
•characteristic facies:  (frontal bossing, thick everted lips, lower half of face is narrow, saddle back nose)
•hair is scraggly, thin, sparse, and dry
•increased frequency of atopic dermatitis
•mnemonic:   don’t let the anhidrotics go to the SPA (SPA = Sparse hair, Peg teeth, Anhidrosis) or they will overheat (but they can get a facial for their abnormal facies)

 

Hidrotic ectodermal dysplasia

•autosomal dominant
•normal facies, normal sweating
•triad: nail dystrophy anonychia and micronychia, sparse hair, palmoplantar keratoderma