Primary choroidal melanoma in phakomatosis pigmentovascularis IIa

Area of Science:

• Ophthalmology
• Dermatology
• Genetics

Background:

• Phakomatosis pigmentovascularis (PPV) is a rare congenital disorder characterized by the association of vascular malformations and pigmented nevi.
• PPV type IIa specifically involves nevus flammeus and nevus anemicus.
• Ocular melanocytosis, a condition of increased melanin in ocular tissues, can occur with PPV.

Observation:

• This case series describes three patients with PPV type IIa and co-existing ocular melanocytosis.
• All patients presented with unilateral nevus flammeus and unilateral ocular melanocytosis.
• Associated findings included renal cysts and nevus anemicus in one patient each.

Findings:

• A unilateral choroidal melanoma was diagnosed in each of the three patients.
• The choroidal melanoma occurred in the same eye affected by ocular melanocytosis.
• No evidence of metastatic disease was found in any of the patients.

Implications:

• The findings suggest a potential association between PPV type IIa, ocular melanocytosis, and the development of choroidal melanoma.
• Clinicians should consider screening for choroidal melanoma in patients diagnosed with PPV, especially those with ocular involvement.
• This highlights the importance of a multidisciplinary approach in managing patients with complex congenital disorders.