Infantile Systemic Hyalinosis: Report Of The First Guyanese Case And Review Of The Literature | 17935
Epidemiology: Open Access
Like us on:
Our Group organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.
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
) 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
(also known as
) makes DNA-based prenatal diagnosis feasible for subsequent pregnancies.
Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals