Atrophic violaceous plaques as the first manifestation of a disorder of GNAS inactivation

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dc.coverageDOI: 10.1111/pde.15339
dc.creatorCaussade, Marie Chantal
dc.creatorDowney, Camila
dc.creatorKramer, Daniela
dc.creatorMorales, Claudia
dc.date2023
dc.date.accessioned2026-01-05T21:17:34Z
dc.date.available2026-01-05T21:17:34Z
dc.description<p>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.</p>eng
dc.identifierhttps://investigadores.uandes.cl/en/publications/83c771d6-ec30-4e2f-93a3-a164e66f0e7a
dc.identifier.urihttps://repositorio.uandes.cl/handle/uandes/67623
dc.languageeng
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.sourcevol.40 (2023) date: 2023-11-01 nr.6 p.1139-1141
dc.subjectdermatopathology
dc.subjectgenodermatoses
dc.subjectGNAS
dc.subjectheterotopic ossification
dc.subjectpediatrics
dc.titleAtrophic violaceous plaques as the first manifestation of a disorder of GNAS inactivationeng
dc.typeArticleeng
dc.typeArtículospa
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