학술논문
Atrophic violaceous plaques as the first manifestation of a disorder of GNAS inactivation.
Document Type
Article
Source
Subject
*SKIN biopsy
*RADIOGRAPHY
*OSSIFICATION
*DERMIS
*HETEROTOPIC ossification
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Language
ISSN
0736-8046
Abstract
We report the case of a 10‐month‐old girl who presented with failure to thrive and multiple small atrophic violaceous plaques, with no other findings on her physical examination. The laboratory examinations, abdominal ultrasound and bilateral hand radiography performed were unremarkable. The skin biopsy revealed fusiform cells and focal ossification in the deep dermis. The genetic study showed a pathogenic variant of GNAS. [ABSTRACT FROM AUTHOR]