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Infantile Systemic Hyalinosis: A Case Report and Literature Review.
Mohammed, Samah E; Mohammed, Mohaned M; Saeed, Muhammad; Al Zahrani, Daifulah; Alasmari, Badriah G.
Afiliação
  • Mohammed SE; Pediatric Medicine, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
  • Mohammed MM; Pediatric Medicine, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
  • Saeed M; Pediatric Neurology, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
  • Al Zahrani D; Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, SAU.
  • Alasmari BG; Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Cureus ; 15(10): e46519, 2023 Oct.
Article em En | MEDLINE | ID: mdl-37927741
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterozygous group of genetic fibromatosis. There is a diffuse deposition of hyaline material in the skin, gastrointestinal tract, muscle, lymph node, spleen, thyroid, and adrenal gland due to which it presents clinically with multiple subcutaneous skin nodules, gingival hypertrophy, osteopenia, joint contractures, failure to thrive, and diarrhea with protein-losing enteropathy, and is associated with recurrent infections. The disease is caused by mutations in ANTXR2 also known as the CMG2 gene, which encodes the transmembrane-extracellular matrix assembly. In this report, we describe a nine-month-old male diagnosed with ISH based on the clinical presentation of severe skin lesions, painful joint contractures, diarrhea, and failure to thrive. His diagnosis was confirmed by molecular DNA sequencing of the ANTXR2 gene. Consanguinity and molecular diagnosis will be helpful for early diagnosis and accurate management.
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Idioma: En Revista: Cureus Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Idioma: En Revista: Cureus Ano de publicação: 2023 Tipo de documento: Article