Abstract

Background: Phakomatosis pigmentovascularis (PPV) is a very unusual congenital neurocutaneous condition that involves both vascular deformities and pigmentary lesions. Despite being described in various subtypes, PPV is underdiagnosed in a clinical context and can include organ systems to varying degrees.
Case Presentation: A case of a 3-month-old male infant, who was presented with congenital depigmented macules on the distal portions of his feet and the palmar side of one representative hand. His right thigh had a capillary malformation that appeared as telangiectatic blotches. The paraffin section of the lesion showed the presence of a normal amount of melanin, with no evidence of absence. Ophthalmological and neurological evaluations did not demonstrate any significant systemic anomalies. Taking into account the combination of nevus depigmentosus, capillary malformation, and localized telangiectasia, the final diagnosis was PPV type I V.
Conclusion: PPV is an uncommon variant and might not be associated with any systemic findings. Although the case in this report demonstrated only skin lesions at this time with a good prognosis, there are many different patterns of natural history associated with PPV; thus, it is critical to have ongoing multidisciplinary follow-up to monitor the potential development of ophthalmologic and neurologic complications.

Key words: Phakomatosis pigmentovascularis, dermal melanocytosis, capillary malformation, pediatric dermatology, nevus depigmentosus, case report