Gowda Vykuntaraju K, Srinivas Sahana M, Gupta Priya, Srinivasan Varunvenkat M, Shivappa Sanjay K, Vishwanathan Gurudatta B
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
J Pediatr Genet. 2021 Nov 9;12(3):199-205. doi: 10.1055/s-0041-1736558. eCollection 2023 Sep.
Infantile systemic hyalinosis is a very rare fatal autosomal recessive genetic disorder with a mutation in capillary morphogenesis gene-2- /Human anthrax toxin-2 resulting in spindle cell proliferation, altered collagen metabolism along with extensive deposition of hyaline material in the skin and several tissues. To date only a few cases have been reported in the literature, hence we reported this series. This study is a retrospective chart review of infants diagnosed with infantile systemic hyalinosis from January 2015 through December 2020 at a tertiary care children's hospital in South India. The mean age of presentation was 9.4 months, with a male to female ratio of 1:5. All children were born of consanguineous marriage except one child. All children had symptoms at birth, painful limb movements, multiple joint stiffness, gingival thickening, skin lesions around perianal, perioral areas, and frog-like position. Three (50%) children had stiff skin. Routine tests including complete blood count, liver function test, renal function test, creatine phosphokinase, nerve conduction studies, and metabolic tests were normal in all children. Skin biopsy showed hyalinized collagenous tissue in the dermis. Genetic study results of two cases revealed pathogenic variants in gene. Infantile systemic hyalinosis should be considered in infants presenting with painful limb movements. The diagnosis helped in avoiding unnecessary investigations and prognostications. The genetic information from proband mutation helped in prenatal diagnosis in two families.
婴儿全身性透明变性是一种非常罕见的致命常染色体隐性遗传病，由毛细血管形态发生基因2/人类炭疽毒素2发生突变引起，导致梭形细胞增殖、胶原代谢改变，同时在皮肤和多个组织中广泛沉积透明物质。迄今为止，文献中仅报道了少数病例，因此我们报告了这一系列病例。本研究是对2015年1月至2020年12月在印度南部一家三级儿童专科医院诊断为婴儿全身性透明变性的婴儿进行的回顾性病历审查。发病时的平均年龄为9.4个月，男女比例为1:5。除一名儿童外，所有儿童均为近亲结婚所生。所有儿童出生时均有症状，肢体运动疼痛、多个关节僵硬、牙龈增厚、肛周和口周皮肤病变以及青蛙样姿势。三名（50%）儿童有皮肤僵硬。所有儿童的常规检查，包括全血细胞计数、肝功能检查、肾功能检查、肌酸磷酸激酶、神经传导研究和代谢检查均正常。皮肤活检显示真皮中有透明化的胶原组织。两例病例的基因研究结果显示该基因存在致病变异。对于出现肢体运动疼痛的婴儿，应考虑婴儿全身性透明变性。该诊断有助于避免不必要的检查和预后判断。先证者突变的基因信息有助于两个家庭进行产前诊断。
