Laser therapy treatment of phacomatosis pigmentovascularis type II: two case reports

Abstract

Introduction: Phacomatosis pigmentovascularis is a rare congenital condition characterized by vascular malformation associated with extensive pigmented nevi. Even though it forms a large, prominent skin lesion, therapy for phacomatosis pigmentovascularis is rarely discussed. To the best of our knowledge, this is the first report of phacomatosis pigmentovascularis type II treated with combined laser therapy using Q-switched alexandrite and long-pulsed dye lasers.

Case presentations: In the first of two cases reported here, a 2-week-old Japanese baby girl was given a diagnosis of phacomatosis pigmentovascularis type II and Klippel-Trénaunay syndrome because of port-wine stains, cutis marmorata telangiectatica congenita, and aberrant Mongolian spots over her trunk and limbs. After five laser therapy sessions under general anesthesia, her aberrant Mongolian spots and port-wine stains have improved. But interestingly, the cutis marmorata telangiectatica congenita on the patient's back has improved without laser therapy.In the second case, a 4-month-old Japanese baby boy was referred to us because of port-wine stains, cutis marmorata telangiectatica congenita, and aberrant Mongolian spots over his face, trunk and limbs. Phacomatosis pigmentovascularis type II was diagnosed and laser therapy was started. After three laser therapy sessions under general anesthesia, the aberrant Mongolian spots and port-wine stains have improved. The cutis marmorata telangiectatica congenita on the baby's back, buttocks, and arms has faded somewhat without laser therapy.

Conclusions: Combined laser therapy improved the phacomatosis pigmentovascularis skin lesions, but was not effective for the cutis marmorata telangiectatica congenita with hemiatrophy. Cutis marmorata telangiectatica congenita without atrophy can be expected to improve on its own. Our results will assist physicians considering how best to treat patients with phacomatosis pigmentovascularis.

Figure 1

Case 1: A baby with phacomatosis pigmentovascularis type IIb treated with combination laser therapy. (A, B) The baby had a port-wine stain on her right side, hemihypertrophy of her legs, and cutis marmorata telangiectatica congenita (CMTC) on her back and legs. (C, D) In photographs taken after five sessions of laser therapy, the aberrant Mongolian spots showed improvement, but the CMTC remained mostly unchanged. The CMTC on the child's back showed improvement without laser therapy.

Figure 2

Case 2: A baby with phacomatosis pigmentovascularis type IIa treated with combination laser therapy. (A, B) The baby had aberrant Mongolian spots on his chest and arms, a port-wine stain (PWS) on his cheek, and cutis marmorata telangiectatica congenita (CMTC) on his lower back and buttocks. (C, D) Photographs taken after three sessions of laser therapy show improvement in the aberrant Mongolian spots and PWS. The CMTC improved without laser therapy.