| • | X-linked dominant (therefore 90% female; and follows Blashko’s lines) |
cutaneous:
| • | soft red-yellow nodules (fat herniations) along Blashko’s lines |
| • | atrophic hypo/hyper-pigmented telangiectatic streaks in Blaschko’s 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
|