Phakomatosis pigmentovascularis type IIb with Klippel-Trenaunay syndrome: Association with GNAQ mutation in vascular endothelial cells

J Dermatol. 2022 Dec;49(12):e444-e445. doi: 10.1111/1346-8138.16538. Epub 2022 Jul 29.

Authors

Yoshihito Minami^{1

2}, Takashi Okamoto², Yosuke Hirotsu³, Kenji Amemiya³, Atsushi Osada¹, Katsuhiko Tsukamoto¹, Masao Omata^{3

4}, Tatsuyoshi Kawamura²

Affiliations

¹ Department of Dermatology, Yamanashi Prefectural Central Hospital, Yamanashi, Japan.
² Department of Dermatology, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan.
³ Genome Analysis Center, Yamanashi Prefectural Central Hospital, Yamanashi, Japan.
⁴ The University of Tokyo, Tokyo, Japan.

PMID: 35906786
DOI: 10.1111/1346-8138.16538

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Endothelial Cells / pathology
GTP-Binding Protein alpha Subunits, Gq-G11 / genetics
Humans
Klippel-Trenaunay-Weber Syndrome* / complications
Klippel-Trenaunay-Weber Syndrome* / diagnosis
Klippel-Trenaunay-Weber Syndrome* / genetics
Mutation
Neurocutaneous Syndromes* / complications
Neurocutaneous Syndromes* / diagnosis
Neurocutaneous Syndromes* / genetics

Substances

GNAQ protein, human
GTP-Binding Protein alpha Subunits, Gq-G11

Supplementary concepts

Phacomatosis pigmentovascularis