title: Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report.
abstract: Infantile systemic hyalinosis (ISH) (MIM 236490) is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues. Our proband was a 4-year-old male with growth retardation, severe labio-gingival enlargement, generalized stiff skin, joint contractures, and intractable diarrhea. We discovered a history of a brother and sister who suffered a more severe disease course. A final diagnosis of systemic hyalinosis was made; we report this case and discuss the clinical and orodental heterogeneity among these siblings in the first report of an Egyptian family with ISH. We present a very rare entity, infantile systemic hyalinosis, a cause of joint contracture, protein-losing enteropathy, and growth retardation in infancy with a review of the relevant literature.
authors.affiliation: Clinical Genetics Department, Division of Human Genetics and Genome Research National Research Centre, Cairo, Egypt.
authors.forename: Ghada Y
authors.initials: GY
authors.lastname: El-Kamah
authors.forename: Mostafa I
authors.initials: MI
authors.lastname: Mostafa
mesh_terms: D000328:Adult; D000402:Airway Obstruction / Q000209:etiology; D002675:Child, Preschool; D003241:Consanguinity; D003286:Contracture / Q000235:genetics* / Q000378:metabolism; D003967:Diarrhea / Q000196:embryology / Q000235:genetics; D004392:Dwarfism / Q000235:genetics* / Q000378:metabolism; D004534:Egypt; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D005885:Gingival Hyperplasia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D008046:Lip / Q000737:chemistry / Q000473:pathology*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D010375:Pedigree; D011504:Protein-Losing Enteropathies / Q000235:genetics* / Q000378:metabolism; D018000:Receptors, Peptide
chemical_list: C447150:ANTXR2 protein, human; D008565:Membrane Proteins; D018000:Receptors, Peptide