P225 Congenital hyaline fibromatosis syndrome: a case report of heterozygous antxr2 and literature review. (June 2019)

• Record Type: Journal Article
• Authors: Salama, Monica; Kasha, Sarah; Govor, Isabela; Hamza, Abdalla
• Is Part Of: Archives of disease in childhood. Volume 104:(2019)Supplement 3
• Page Start: A246
• Page End: A246
• Publication Date: 2019-06
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2019-epa.575
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Introduction: Juvenile hyaline fibromatosis is a rare hereditary disease characterized by deposits of a clear substance (hyaline) in the skin and other body tissues, it becomes apparent at birth or in infancy presenting with severe pain with movement, skin lesions & bumps, gingival hyperplasia, progressive joint contractures, and bone lesions. 1 Complications can be life threatening. The inheritance follows autosomal recessive pattern, Causing mutations in the ANTXR2 gene. Treatment is supportive and aims to alleviate pain and other symptoms of the condition. The prevalence is unknown; about 84 people with this disorder have been reported in 2018 2 . Case: We report a 23 month old boy, born at 38 weeks gestation, no neonatal complications. He was referred to paediatric clinic at 3 month old with excessive crying, feeding difficulty and failure to thrive crossing down on centiles from 9 th to <0.4 th centile. At 8 months noted to have limited movement of both shoulders. He then started to have gingivitis and gum swelling which progressed to gingival hyperplasia. Developmentally he sat unsupported at 8 months, not crawling or standing no concerns about hearing or vision, plays and interacts well with siblings. Parents are non consanguineous of Syrian origin, He has two sisters and one brother all well. They had no skin lesions or joint problems. There was no history of similarly affected relatives. Physical examination: He appears symmetrically small, generally bright visually alert to his surroundings. Visible nodules over left ear and left nostril, gum hypertrophy .Decreased muscle bulk in his deltoids with limited passive movement of both shoulders and extreme pain on any shoulder movement. Cannot stand or walk independently. Laboratory investigations: Biochemical and metabolic work up was all normal DNA PCR: Heterozygous ANTXR2 gene detected.