Infantile systemic hyalinosis: Case report and review of the literature

• Published in: Journal of the American Academy of Dermatology Vol. 58; no. 2; pp. 303 - 307
• Main Authors: Lindvall, Lisa E., MS, Kormeili, Tanya, MD, Chen, Elaine, BA, Ramirez, Maria Celeste M., PhD, Grum-Tokars, Valerie, PhD, Glucksman, Marc J., PhD, Martignetti, John A., MD, PhD, Zaragoza, Michael V., MD, PhD, Dyson, Senait W., MD
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.02.2008; Elsevier
• Subjects: Amino Acid Substitution; Biological and medical sciences; Contracture - genetics; Contracture - pathology; Dermatology; Diarrhea - pathology; Fatal Outcome; Female; General aspects; Humans; Infant; Joint Diseases - genetics; Joint Diseases - pathology; Medical sciences; Membrane Proteins - genetics; Muscular Diseases - genetics; Muscular Diseases - pathology; Receptors, Peptide; Skin Diseases - genetics; Skin Diseases - pathology; Human; Case study; Skin disease; Literature; Dermatology; Infant; Systemic; Child; Hyalinosis

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 hypert...