Atrophic violaceous plaques as the first manifestation of a disorder of GNAS inactivation.
Marie-Chantal CaussadeCamila DowneyDaniela KramerClaudia MoralesPublished in: Pediatric dermatology (2023)
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.
Keyphrases
- induced apoptosis
- ultrasound guided
- magnetic resonance imaging
- physical activity
- cell cycle arrest
- single cell
- genome wide
- mental health
- gene expression
- case report
- cell death
- magnetic resonance
- oxidative stress
- cell proliferation
- fine needle aspiration
- dna methylation
- wound healing
- endoplasmic reticulum stress
- signaling pathway