Infantile Systemic Hyalinosis: Report Of The First Guyanese Case And Review Of The Literature | 17935
ISSN: 2161-1165

Epidemiology: Open Access
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Infantile systemic hyalinosis: Report of the first Guyanese case and review of the literature

2nd International Conference on Epidemiology & Evolutionary Genetics

Narcisse Elenga and Alain Verloes

Accepted Abstracts: Epidemiol

DOI: 10.4172/2161-1165.S1.009

I nfantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by diffuse hyaline deposit in the skin, muscles, glands and gastrointestinal tract. Typically, ISH occurs within the first week of the life and is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, protein-losing enteropathy with intractable diarrhea, thickened skin and frequent infections. We report a patient with ISH confirmed by clinical and histopathologic findings. DNA sequencing of the CMG2 gene (aka ANTXR2 ) revealed compound heterozygocity for two mutations: c.697G>T in the donor site of exon 8, which affects splicing, and c.858_859delAG (p.Lys286Asnfs) in exon 10, which cause a frameshift with premature termination of the translation. The differential diagnosis was congenital syphilis or Caffey disease. Although there is currently no effective treatment for this disease which is usually fatal by the age of 2 years, identification of the mutations in CMG2 (also known as ANTXR2 ) makes DNA-based prenatal diagnosis feasible for subsequent pregnancies.