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Phacomatosis Pigmentovascularis: Genetic Insights through Cutaneous Pigmentation

Year: 2025

Type: article

Abstract: Phacomatosis pigmentovascularis is a group of alterations involving a vascular malformation and a melanocytic lesion, and have diverse clinical cutaneous manifestations, which is the base for the current classification. Furthermore, systemic alterations can occur, including ophthalmological and neurological alterations, some with long term sequalae potential. The case of a 16-day old male patient without previous illness presenting with vascular and pigmented lesions is presented here, with subsequent referral to rule out the most important systemic alterations.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.15009981

Authors: Veronica Martinez Garcia, Lucia Achell Nava, Guadalupe Maldonado Colin, Dolores Maribel Arellano Vivero, Carla Fernandez Reynoso

Institution: Institute for Social Security and Services for State Workers

Language: English

Topic: Vascular Malformations and Hemangiomas

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W6949271235

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