Ontology highlight
ABSTRACT:
SUBMITTER: Jensen B
PROVIDER: S-EPMC7488857 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Jensen Barbara B James Rebecca R Hong Ying Y Omoyinmi Ebun E Pilkington Clarissa C Sebire Neil J NJ Howell Kevin J KJ Brogan Paul A PA Eleftheriou Despina D
Pediatric rheumatology online journal 20200911 1
<h4>Background</h4>Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. Skin thickening and joint contractures are often the main presenting features of the disease and may be mistaken for juvenile scleroderma.<h4>Case presentation</h4>We report a case of a 13 year-old female presenting with widespread skin thickening and joint contractures from infancy. She was diagnos ...[more]