Carney complex 1 with PRKAR1A mutations manifesting as multiple repeated skin myxomas: A case report

J Dermatol. 2020 Apr;47(4):e122-e124. doi: 10.1111/1346-8138.15254. Epub 2020 Feb 3.

Authors

Hiroyuki Sakugawa¹, Kentaro Hayashi¹, Michihito Uema², Takuya Miyagi¹, Daisuke Utsumi¹, Sayaka Yamaguchi¹, Kenzo Takahashi¹

Affiliations

¹ Department of Dermatology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.
² Faculty of Medicine, University of the Ryukyus, Nishihara, Japan.

PMID: 32011755
DOI: 10.1111/1346-8138.15254

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Carney Complex / diagnosis*
Carney Complex / genetics
Carney Complex / pathology
Codon, Nonsense
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics*
DNA Mutational Analysis
Eyelids
Humans
Male
Middle Aged
Myxoma / diagnosis*
Myxoma / genetics
Myxoma / pathology
Neoplasms, Multiple Primary / diagnosis*
Neoplasms, Multiple Primary / genetics
Neoplasms, Multiple Primary / pathology
Skin / pathology
Skin Neoplasms / diagnosis*
Skin Neoplasms / genetics
Skin Neoplasms / pathology
Thigh

Substances

Codon, Nonsense
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
PRKAR1A protein, human