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Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases
Vykuntaraju K Gowda1, Sahana M Srinivas2, Priya Gupta1
1Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
Insights
Infantile systemic hyalinosis, a rare genetic disorder caused by ANTXR2 gene mutations, presents with painful movements and skin lesions. Early diagnosis aids in avoiding unnecessary tests and enables prenatal diagnosis.
Area of Science:
- Genetics
- Pediatrics
- Dermatology
Background:
- Infantile systemic hyalinosis (ISH) is a rare, fatal genetic disorder.
- It stems from mutations in the capillary morphogenesis gene-2 (CMG2)/Human anthrax toxin-2 (ANTXR2) gene.
- Characterized by spindle cell proliferation and hyaline material deposition.
Purpose of the Study:
- To report a series of infants diagnosed with ISH.
- To highlight clinical presentations and diagnostic findings.
- To emphasize the importance of genetic analysis for diagnosis and counseling.
Main Methods:
- Retrospective chart review of infants diagnosed with ISH between January 2015 and December 2020.
- Clinical data collection including symptoms, physical examination, and laboratory tests.
- Skin biopsy and genetic studies (ANTXR2 gene sequencing).
Main Results:
- The mean age of presentation was 9.4 months, with a 1:5 male to female ratio.
- Common symptoms included painful limb movements, joint stiffness, gingival thickening, and skin lesions.
- Skin biopsies showed hyalinized collagen, and genetic studies confirmed ANTXR2 pathogenic variants.
Conclusions:
- ISH should be considered in infants with painful limb movements.
- Diagnosis avoids unnecessary investigations and aids prognostication.
- Genetic findings facilitate prenatal diagnosis for affected families.
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.
