Phakomatosis are a heterogeneous group of disorders caused by hereditary or sporadic mutations in tumor suppressor genes that affect the proliferation and migration of glial cells and neurons and the angiogenesis mechanism ₁.

The hereditary form follows an autosomal dominant pattern with variable expression and penetrance between and within families. Sturge-weber syndrome occurs sporadically, whereas it arises de novo in 50% of patients with Neurofibromatosis type I and II and 20% with Tuberous Sclerosis ₂.

Phakomatosis present with cutaneous signs, multiple neoplasias, hamartomatous malformations or other congenital features depending on the disease.

Moreover, since they are chronic entities, the clinical signs develop progressively over time and they might be diagnosed late _1,2.

Besides, some of them have such characteristic features that radiology might not be needed to diagnose it, but just to confirm it. Even so, imaging techniques are readily used to follow up on the patient and the treatment response ₂.