title: Infantile systemic hyalinosis: Case report and review of the literature.
abstract: Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and frequent infections. Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopathology shows hyaline deposits in the dermis and visceral organs. We describe a patient with ISH confirmed by clinical and histopathologic findings, as well as DNA sequence analysis, which revealed a novel homozygous T118K mutation in the CMG2 gene.
authors.affiliation: Department of Dermatology, Division of Genetics, University of California, Irvine, California 92868, USA.
authors.forename: Lisa E
authors.initials: LE
authors.lastname: Lindvall
authors.forename: Tanya
authors.initials: T
authors.lastname: Kormeili
authors.forename: Elaine
authors.initials: E
authors.lastname: Chen
authors.forename: Maria Celeste M
authors.initials: MC
authors.lastname: Ramirez
authors.forename: Valerie
authors.initials: V
authors.lastname: Grum-Tokars
authors.forename: Marc J
authors.initials: MJ
authors.lastname: Glucksman
authors.forename: John A
authors.initials: JA
authors.lastname: Martignetti
authors.forename: Michael V
authors.initials: MV
authors.lastname: Zaragoza
authors.forename: Senait W
authors.initials: SW
authors.lastname: Dyson
mesh_terms: D019943:Amino Acid Substitution; D003286:Contracture / Q000235:genetics / Q000473:pathology*; D003967:Diarrhea / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D007592:Joint Diseases / Q000235:genetics / Q000473:pathology*; D008565:Membrane Proteins / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics / Q000473:pathology*; D018000:Receptors, Peptide; D012871:Skin Diseases / Q000235:genetics / Q000473:pathology*
chemical_list: C447150:ANTXR2 protein, human; D008565:Membrane Proteins; D018000:Receptors, Peptide