Dermatologic disorders Flashcards
1
Q
HYPOHIDROTIC ECTODERMAL DYSPLASIA
A
XLR (EDA:95%), AD or AR (5%)- EDAR, EDARADD
He has extremely sparse hair. Skull x-rays show absence of most of the primary tooth buds.
- Female carriers: Carriers of XL HED show mosaic pattern of sweat pore function and some degree of hypodontia.
2
Q
Hypohidrotic Ectodermal Dysplasia
A
- At birth: peeling skin and perioral hyperpigmentation.
- Hypotrichosis(sparse scalp and body hair),
- hypohidrosis(inability to sweat in response to heat leads to hyperthermia),
- hypodontia (usually only 5-7 teeth develop, teeth are smaller with conical crowns).
3
Q
HYPOHIDROTICECTODERMALDYSPLASIA
A
Hypodontia and abnormally shaped teeth
4
Q
HYPOHIDROTIC ECTODERMAL DYSPLASIA
A
Ectodysplasin-A
- Tumor necrosis factor receptor superfamily member EDAR, ectodysplasin A receptor-associated adapter protein
- cell signaling that regulates morphogenesis of ectodermal appendages. D
- efective EDAR cannot bind ectodysplasin. The protein encoded by EDARADD is co-expressed with EDAR.
- Treatment/Prognosis: During hot weather maintain hydration and keep down body temp with A/C, “cooling vests”, and/or spray bottle of water. Tooth restoration, orthodontics, and/or dentures may be necessary
