• | 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
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