J Pediatr Genet 2023; 12(03): 199-205
DOI: 10.1055/s-0041-1736558
Original Article

Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases

1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India
,
Sahana M. Srinivas
2   Department of Pediatric Dermatology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India
,
Priya Gupta
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India
,
Varunvenkat M. Srinivasan
1   Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India
,
Sanjay K. Shivappa
3   Department of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India
,
Gurudatta B. Vishwanathan
4   Center for Human Genetics, Bangalore, Karnataka, India
› Author Affiliations

Abstract

Infantile systemic hyalinosis is a very rare fatal autosomal recessive genetic disorder with a mutation in capillary morphogenesis gene-2-CMG2/Human anthrax toxin-2 ANTXR2 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 ANTXR2 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.



Publication History

Received: 24 January 2021

Accepted: 10 September 2021

Article published online:
09 November 2021

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