N.B. was born 12.11.85 by L.S.C.S. for fetal distress and I.U.G.R. On day 2, and the next 10 months, she had episodes of apnea. On day 17, fluctuating skin appearances suggested cutis marmorata, which at 13 months progressed to marbling and at 2 years became classical livedo reticularis. At the same time the skin around her mouth and nose became pinched and there was generalised tightening of the skin. At the age of 6 years, she developed white, waxy depigmented areas on her trunk and limbs with telangiectasia of her fingers and toes.

At 8 months she had the first of many ischemic episodes of her extremities, the right thumb becoming gangrenous with loss of the nail and shortening of the terminal phalanx. A similar episode affected her right middle finger during the prodrome of chicken pox at 18 months.

Log in or create a free account to read this content

Gain free access to this article, as well as selected content from this journal and more on nature.com

Access through your institution

or

Sign in or create an account
Continue with Google
Continue with ORCiD