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

Marie Chantal Caussade; Camila Downey; Daniela Kramer; Claudia Morales

doi:10.1111/pde.15339

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

Marie Chantal Caussade^*
, Camila Downey
, Daniela Kramer
, Claudia Morales

^*Autor correspondiente de este trabajo

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

Resumen

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.

Idioma original	Inglés
Páginas (desde-hasta)	1139-1141
Número de páginas	3
Publicación	Pediatric Dermatology
Volumen	40
N.º	6
DOI	https://doi.org/10.1111/pde.15339
Estado	Publicada - 1 nov. 2023

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© 2023 Wiley Periodicals LLC.

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title = "Atrophic violaceous plaques as the first manifestation of a disorder of GNAS inactivation",

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.",

keywords = "dermatopathology, genodermatoses, GNAS, heterotopic ossification, pediatrics",

author = "Caussade, \{Marie Chantal\} and Camila Downey and Daniela Kramer and Claudia Morales",

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AU - Caussade, Marie Chantal

AU - Downey, Camila

AU - Kramer, Daniela

AU - Morales, Claudia

PY - 2023/11/1

Y1 - 2023/11/1

N2 - 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.

AB - 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.

KW - dermatopathology

KW - genodermatoses

KW - GNAS

KW - heterotopic ossification

KW - pediatrics

UR - https://www.scopus.com/pages/publications/85158090843

U2 - 10.1111/pde.15339

DO - 10.1111/pde.15339

M3 - Article

C2 - 37139639

AN - SCOPUS:85158090843

SN - 0736-8046

VL - 40

SP - 1139

EP - 1141

JO - Pediatric Dermatology

JF - Pediatric Dermatology

IS - 6

ER -

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

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