Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome

• Главные авторы: K Amrutha Varshini (Автор), K Haritha (Автор), Chirag A Desai (Автор), G Raghurama Rao (Автор), A Prasad Chowdary (Автор), A Amareswar (Автор), P Ramana Murty (Автор)
• Формат: ‌
• Опубликовано: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• Предметы: article
• Online-ссылка: Connect to this object online.

Juvenile hyaline fibromatosis or infantile systemic hyalinosis is a rare progressive, fatal autosomal recessive disorder characterized by widespread deposition of hyaline. Mutations in capillary morphogenesis gene 2 gene is responsible for both these conditions. They usually present with fleshy, pap...