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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 la...

Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenes...

Phacomatosis Pigmentovascularis is a rare syndrome characterized by capillary malformation and pigmentary nevus. A case of a 2-year-old patient is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot, without systemic disease, manifestations that allow us to classify this case as type IIa Phacomatosis Pigmentovascularis, according to Hasegawa's classification.

<p class="abstract">Phacomatosis pigmentovascularis is a rare group of syndromes characterized by the co-existence vascular nevus and pigmentary with or without extracutaneous systemic involvement. The existing classifications phacomatosis are based on phenotypic characteristics. We report case pigmentovascularis, flammeus, anaemicus dermal melanocytosis manifestations. molecular basis ye...

Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vasc...

CMTC: Cutis marmorata telangiectatica congenita PPV: Phacomatosis pigmentovascularis INTRODUCTION The coexistence of cutis marmorata telangiectatica congenita (CMTC) with Mongolian spots has been reported as a distinct type of phacomatosis pigmentovascularis (PPV), namely PPV type V or phacomatosis cesiomarmorata. PPV type V is a rare congenital vascular anomaly, with only 7 previous cases ment...

Sturge-Weber Syndrome (SWS) occurs sporadically with a frequency of approximately 1 in 50,000. SWS is a mesodermal phakomatosis. Klippel-Trenaunay Weber syndrome (KTWS) is another very rare phakomatosis. Overlap between SWS & KTWS is very rarely encountered. We report a 19 months old boy with features of both SWS and KTWS. The reported case had seizures, port wine haemangioma of the right side ...