Abstract Number: 169

Red-white and blue baby: A rare case of phacomatosis pigmentovascularis type V

D. Surjana, L. Byrom, C. Yoong, T. Zappala

Meeting: 2014 Dermcoll

Session Information

Date: -

Session Title: Poster Presentations

Session Time: -

Phacomatosis pigmentovascularis (PPV) is a rare genodermatosis characterized by a combination of extensive pigmentary nevus with a widespread vascular nevus. Coexistence of aberrant Mongolian spots and cutis marmorata telangiectatica congenita (CMTC) has been termed PPV type V or phacomatosis cesiomarmorata. PPV type V was first described in a 3-month-old boy in 2000, 2 and since then, there were only seven other cases published in the literature. A newborn girl presented with extensive greyish-blue hyperpigmentation (Mongolian spots) involving her left arm, back, buttock and legs. Marble-like vascular lesions consistent with CMTC were noted on her trunk, back, buttock, arms and legs, and in some parts intermingled with the Mongolian spots. Furthermore, greyish pigmented patches on her right temple and left preauricular, suggestive of Ota nevi, were present. She was born at 41 weeks via spontaneous vaginal delivery. Pregnancy was uneventful. Her parents were both of Chinese background, and were not consanguineous. There was no family history of inherited diseases or birthmarks. Review at 8 months of age showed normal general and neurological examination, and milestones development. The aberrant Mongolian spots showed some fading but were still visible, whereas the CMTC remained mostly unchanged.