By Disease Name > Focal Dermal Hypoplasia

Focal Dermal Hypoplasia

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AKA Goltz syndrome
X-linked dominant (therefore 90% female;  and follows Blashkos lines)

 

cutaneous:

soft red-yellow nodules (fat herniations) along Blashkos lines
atrophic hypo/hyper-pigmented telangiectatic streaks in Blaschkos lines

 

skeletal:

severe skeletal abnormalities (e.g. oligodactyly with “lobster claw” deformity)
osteopathia striata (vertical striation in metaphysis of long bones on x-ray) >80%

 

ddx:  IP, Rothmund-Thompson syndrome