Infantile systemic hyalinosis: Variable grades of severity

• Main Authors: Ali Al Kaissi (Author), Marwa Hilmi (Author), Zulfiya Betadolova (Author), Sami Bouchoucha (Author), Svetlana Trofimova (Author), Mohammad Shboul (Author), Guseyn Rustamov (Author), Wiam Dwera (Author), Katharina Sigl (Author), Vladimir Kenis (Author), Susanne Gerit Kircher (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2021-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited disorder. The classical natural history of the disease is characterised by hypotonia, multiple contractures, skin lesions, osteopenia, joint pain, bone fractures, persistent diarrhoea and growth deficiency. Materia...