Atrophic violaceous plaques as the first manifestation of a disorder of GNAS inactivation-Reference-Cited by-同舟云学术

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

Published:2023-05-04 Issue:6 Volume:40 Page:1139-1141
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Caussade Marie‐Chantal¹^ORCID,Downey Camila²³^ORCID,Kramer Daniela³,Morales Claudia⁴

Affiliation:

1. Universidad de los Andes Santiago Chile

2. Dermatology Department, Clínica Alemana Facultad de Medicina Universidad del Desarrollo Santiago Chile

3. Dermatology Department Hospital Luis Calvo Mackenna Santiago Chile

4. Pathology Department Hospital Clínico Universidad de Chile, Facultad de Medicina Universidad de Chile Santiago Chile

Abstract

AbstractWe 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.

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15339

Reference12 articles.

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2. Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum ofGNASInactivating Mutations

3. Screening for GNAS genetic and epigenetic alterations in progressive osseous heteroplasia: First Italian series

4. A positive genotype–phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo‐pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene