Infantile systemic hyalinosis: Case report and review of the literature

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...

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Published in:Journal of the American Academy of Dermatology 2008-02, Vol.58 (2), p.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: Article
Language:English
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
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Summary: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.
ISSN:0190-9622
1097-6787
DOI:10.1016/j.jaad.2007.06.008