Phacomatosis pigmentovascularis of cesioflammea type

Abstract Phacomatosis pigmentovascularis is a rare syndrome, defined as the simultaneous presence of vascular nevus and melanocytic nevus in the same patient. We report the case of a 53-year-old woman presented with dermal melanosis and extensive vascular nevus, which match the typical manifestations of phakomatosis pigmetovascularis of cesioflammea type, according to Happle's classification. The rare occurrence of this genodermatosis and the clinical exuberance of the skin lesions motivated this case report.

The case of a boy with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita: a unique instance of phacomatosis pigmentovascularis

Phacomatosis pigmentovascularis is a rare, congenital condition characterized by a combination of cutaneous melanocytic lesions and vascular malformation. We discuss an entirely unique case of Phacomatosis pigmentovascularis with nevus of Ota, extensive Mongolian spot, nevus flammeus, nevus anemicus and cutis marmorata telangiectatica congenita, which may represent a heretofore undescribed variant of phacomatosis pigmentovascularis.

Phacomatosis pigmentovascularis type IIa - case report / Facomatose pigmentovascular tipo IIa - relato de caso

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.

A Facomatose Pigmentovascular, síndrome rara, é caracterizada pela presença concomitante de malformação capilar e nevos pigmentares. Relata-se o caso de um paciente de dois anos de idade com malformação capilar extensa e mancha mongólica aberrante sem comprometimento sistêmico, manifestações que o incluem no tipo IIa na classificação da Facomatose Pigmentovascular, segundo Hasegawa.

Melanosis neurocutánea: Comunicación de un caso y revisión de la bibliografía / Neurocutaneous melanosis: Case report and literature review

La melanosis neurocutánea se caracteriza por la proliferación de melanocitos y depósitos de melanina en el sistema nervioso central asociada con nevos melanocíticos gigantes. Los pacientes con nevos melanocíticos congénitos gigantes localizados en el eje axial posterior (dorso, nuca o cabeza) o múltiples nevos melanocíticos congénitos pequeños son los que tienen mayor riesgo de presentarla. En la mayoría de los pacientes la melanosis neurocutánea es asintomática y se detecta como un hallazgo en los estudios por imágenes; sin embargo, los casos que desarrollan síntomas tienen mal pronóstico y el óbito se produce antes de los 3 años de iniciados. Se presenta una paciente con un nevo melanocítico congénito gigante y múltiples satelitosis, con compromiso asintomático del sistema nervioso central. Se destaca la importancia del seguimiento multidisciplinario de estos niños con el fn de detectar, en forma precoz, cualquier signo o síntoma neurológico que pudiesen desarrollar, como así también la presencia de melanoma.

Neurocutaneous melanosis is characterized by an increased number of melanocytes and melanin deposit in central nervous system associated with giant melanocytic congenital nevi. Patients with multiple satellite nevi or giant cutaneous melanocytic nevus in a midline location (overlying the back, neck or head) have more likelihood of having neurocutaneous melanosis. In most patients, the neurocutaneous melanosis is asymptomatic, only detectable by MRI; nevertheless, those patients with clinical manifestations have a poor prognosis, dying within 3 years of initial neurological manifestations. We present a patient with giant melanocytic congenital nevi and multiple satellite nevi associated with asymptomatic neurocutaneous melanosis. We emphazise the importance of multidisciplinary evaluation in order to detect early neurological symptoms and/or melanoma.