Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature.
BACKGROUND
Phakomatosis pigmentovascularis (PPV) is a rare syndrome characterized by the association of a vascular nevus with an extensive pigmentary nevus.


OBJECTIVE
We sought to study and evaluate clinical findings in patients with PPV referred to the laser department of our hospital.


METHODS
We revised the clinical findings of 15 patients with PPV and reclassified them according to Happle's new classification.


RESULTS
We studied 11 female patients and 4 male patients with a mean age of 21 years. Thirteen had phakomatosis cesioflammea, one cesiomarmorata, and one an unclassifiable form. Of 15 patients, 12 had nevus of Ota. The vascular involvement was extensive in our PPV population and 14 patients were affected in two or more areas. The mosaicism pattern in 13 patients was patchy and without a midline separation. The most frequent associations found were Sturge-Weber syndrome, Klippel-Trénaunay syndrome, and melanosis oculi.


CONCLUSIONS
Limitations include the methods of case collection, that this is a retrospective study, and that there were a relatively small number of patients.


CONCLUSIONS
PPV are rare syndromes with a wide variability in their clinical expression. Most of the publications in the literature have only reported isolated cases.
Department of Dermatology, Ramon y Cajal Hospital, Madrid, Spain. montsefdez@msn.com
Montse
M
Fernández-Guarino
Pablo
P
Boixeda
Elena
E
de Las Heras
Sonsoles
S
Aboin
Cristina
C
García-Millán
Pedro Jaén
PJ
Olasolo
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005128:Eye Diseases / Q000150:complications; D005260:Female; D006801:Humans; D007223:Infant; D007715:Klippel-Trenaunay-Weber Syndrome / Q000150:complications; D008297:Male; D008548:Melanosis / Q000150:complications; D008875:Middle Aged; D009030:Mosaicism; D009506:Nevus / Q000150:complications / Q000235:genetics / Q000473:pathology*; D009508:Nevus, Pigmented / Q000150:complications / Q000235:genetics / Q000473:pathology*; D012189:Retrospective Studies; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology*; D013341:Sturge-Weber Syndrome / Q000150:complications; D013577:Syndrome; D019043:Vascular Neoplasms / Q000150:complications / Q000235:genetics / Q000473:pathology*