A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity

被引：5
|
作者：
Baroud, Sumer [1 ]
Alawadhi, Ameen [2 ]
机构：
[1] Med Univ Sharjah, Dept Dermatol, Sharjah, U Arab Emirates
[2] Salmaniya Med Complex, Dept Dermatol, Manama, Bahrain
来源：
CUREUS JOURNAL OF MEDICAL SCIENCE | 2021年 / 13卷 / 07期
关键词：
hyaline fibromatosis syndrome; infantile systemic hyalinosis; juvenile hyalinosis; fibromatosis; joint contractures; skin lesions; FIBROMATOSIS; MUTATIONS;
D O I：
10.7759/cureus.16433
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by widespread abnormal growth of hyalinized fibrous tissue in skin and mucosae. The typical clinical picture consists of the development of joint contractures, skin lesions, and severe, chronic pain. We report the case of a 2-year-old Pakistani girl, who presented to our clinic with papulonodular lesions, gingival hyperplasia, hypotonia, and joint contractures. Skin biopsy revealed hyaline deposits, and genetic testing revealed a mutation in the protein Anthrax toxin receptor 2 (ANTXR2).
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页数：7
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