Cesioflammea-type phakomatosis: Newborn case report with Mongolian spots and Port wine. A simple presentation of a complex dermatological condition.

Abstract

Phakomatosis pigmentovascularis is set of signs and symptoms characterized by the association of a vascular nevus with a congenital pigmented lesion (epidermal nevus, nevus spilus, and dermal melanocytosis) associated or not to systemic malformations. There are different types of phakomatosis pigmentovascularis according to the pigmentary nevus associated with the vascular malformation.
There may be only the cutaneous condition or have systemic manifestations such as, trauma, neurological, ophthalmological, inmunological, renal, vascular, lymphatic, among others disorders.
We present the case of a male newborn who had a port wine stain located bilaterally on the face, anterior and posterior thorax and neck, together with dermal melanocitosis in the back and lower extremities, associated with congenital glaucoma of the right eye.
Due the clinical manifestations, the diagnosis of phakomatosis pigmentovascularis was made and multidisciplinary evaluation is requested by radiology, dermatology, ophthalmology, genetics and neurology to rule out extracutaneous involvement.
Complementary studies are essential to detect extracutaneous alterations as presented in the patient.