Phakomatosis pigmentovascularis: Clinical findings in 15 patients and review of the literature

• Published in: Journal of the American Academy of Dermatology Vol. 58; no. 1; pp. 88 - 93
• Main Authors: Fernández-Guarino, Montse, MD, Boixeda, Pablo, MD, PhD, de las Heras, Elena, MD, PhD, Aboin, Sonsoles, MD, García-Millán, Cristina, MD, Olasolo, Pedro Jaén, MD, PhD
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 2008; Elsevier
• Subjects: Adolescent; Adult; Biological and medical sciences; Child; Child, Preschool; Dermatology; Eye Diseases - complications; Female; Humans; Infant; Klippel-Trenaunay-Weber Syndrome - complications; Male; Medical sciences; Melanosis - complications; Middle Aged; Mosaicism; Nevus - complications; Nevus - genetics; Nevus - pathology; Nevus, Pigmented - complications; Nevus, Pigmented - genetics; Nevus, Pigmented - pathology; Retrospective Studies; Skin Neoplasms - complications; Skin Neoplasms - genetics; Skin Neoplasms - pathology; Sturge-Weber Syndrome - complications; Syndrome; Vascular Neoplasms - complications; Vascular Neoplasms - genetics; Vascular Neoplasms - pathology; Human; Symptomatology; Skin disease; Literature; Dermatology; Phakomatosis pigmentovascularis; Review
• ISSN: 0190-9622; 1097-6787
• DOI: 10.1016/j.jaad.2007.08.012

Introduction 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. Limitations 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.