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 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.
Lindvall
Lisa E
LE
Department of Dermatology, Division of Genetics, University of California, Irvine, California 92868, USA.
Kormeili
Tanya
T
Chen
Elaine
E
Ramirez
Maria Celeste M
MC
Grum-Tokars
Valerie
V
Glucksman
Marc J
MJ
Martignetti
John A
JA
Zaragoza
Michael V
MV
Dyson
Senait W
SW
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*
C447150:ANTXR2 protein, human; D008565:Membrane Proteins; D018000:Receptors, Peptide