Nevus Vascularis Mixtus / 대한피부과학회지

The concept of mosaicism has been used to explain different cutaneous patterns, such as the lines of Blaschko, the checkerboard pattern, the phylloid pattern, and a patchy pattern. Many mosaic patterns are caused by loss of heterozygosity, the genetic mechanism by which a heterozygous somatic cell becomes either homozygous or hemizygous. A particular form of loss of heterozygosity is twin spotting, which give rise to two contrary homozygous daughter cells. The concept of twin spotting has been used for some of these human phenotypes, which are characterized by the co-occurrence of two different nevi, including nevus vascularis mixtus. Nevus vascularis mixtus is a rare vascular malformation characterized by the coexistence of a nevus anemicus and a nevus telangiectaticus, and can be associated with extra-cutaneous anomalies, such as cerebral malformations. Herein, we report a 6-year-old girl with paired cutaneous vascular nevi telangiectaticus, anemicus, and nevus vascularis mixtus, that were distributed on the left side of her chest and left arm, without other systemic and neurologic anomalies.

Phacomatosis pigmentovascularis: Report of four new cases.

Phacomatosis pigmentovascularis is a rare group of syndromes characterized by the co-existence of a vascular nevus and a pigmentary nevus with or without extracutaneous systemic involvement. The existing classifi cations of phacomatosis pigmentovascularis are based on phenotypic characteristics. We report four new cases of phacomatosis pigmentovascularis, three with phacomatosis cesiofl ammea demonstrating phenotypic variability, and one with phacomatosis cesiomarmorata. Extracutaneous manifestations were observed in three patients (75%) that included central nervous system involvement in three, bilateral congenital glaucoma in two, and cardiovascular system involvement in one. The molecular basis of phacomatosis pigmentovascularis is yet to be elucidated. Whether the various subtypes of phacomatosis pigmentovascularis are separate molecular entities or phenotypic variants of the same disease needs to be settled.

Phacomatosis cesioflammea: First case report from India.

Phacomatosis cesioflammea is a rare condition defined by the simultaneous presence of both vascular and pigmentary nevus in the same patient. We report a case of a 4-year-old Indian female child who presented with diffuse dermal melanosis on the upper shoulders, upper anterior chest and lower back and extending to involve both sides of the arms and forearms, generalized port-wine stain on the back, shoulders and both upper limbs with sparing of the right palm. At places, the two types of lesions were superimposed on each other and were also present discretely on the back, but in close proximity to each other. There was the presence of melanosis bulbi on the right side of the eye. She was otherwise normal. She was clinically diagnosed as a case of phacomatosis pigmentovascularis cesioflammea. The nonallelic twin spotting phenomenon has been proposed in the pathogenesis of this disorder.