title: Infantile systemic hyalinosis.
abstract: Infantile systemic hyaloinosis is a rare, progressive, and fatal disease that is inherited in an autosomal recessive fashion. We describe 2 patients in whom thickened skin; small nodules of the perianal region, face, and neck; joint contractures; growth failure; diarrhea; and frequent infections developed within the first few weeks of life. Both patients died before 2 years of age.
authors.affiliation: Ronald O. Perelman Department of Dermatology, New York University School of Medicine, 560 First Avenue, H-100, New York, NY 10016, USA. shinh01@med.nyu.edu
authors.forename: Helen T
authors.initials: HT
authors.lastname: Shin
authors.forename: Amy
authors.initials: A
authors.lastname: Paller
authors.forename: George
authors.initials: G
authors.lastname: Hoganson
authors.forename: Judith P
authors.initials: JP
authors.lastname: Willner
authors.forename: Mary Wu
authors.initials: MW
authors.lastname: Chang
authors.forename: Seth J
authors.initials: SJ
authors.lastname: Orlow
mesh_terms: D002081:Buttocks; D003095:Collagen Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003286:Contracture / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005183:Failure to Thrive; D005260:Female; D006225:Hand; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D007223:Infant; D007231:Infant, Newborn; D035002:Lower Extremity; D008297:Male; D010859:Pigmentation Disorders / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology