Phakomatosis pigmentovascularis type 2a: a rare case report.

ABSTRACT:

Background

Phakomatosis pigmentovascularis (PPV) is a rare congenital cutaneous syndrome characterized by capillary malformation and extensive dermal melanosis. The complexity of PPV is reflected in its evolving classification systems. Systemic manifestations encompass ocular, neurological, vascular, musculoskeletal, and renal involvement. The pathogenesis, linked to abnormalities in neural cell development and migration, contributes to the varied clinical features of PPV. We describe a rare case of a 21-month-old Saudi girl who presented to our clinic with features of PPV type 2a.

Case description

A 21-month-old Saudi girl presented to the clinic with erythematous to violaceous patches and diffuse greyish patches over her back and buttocks since birth. Examination revealed

SUBMITTER: Dilli A 

PROVIDER: S-EPMC11759924 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature