Infantile systemic hyalinosis.
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.
Shin
Helen T
HT
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
Paller
Amy
A
Hoganson
George
G
Willner
Judith P
JP
Chang
Mary Wu
MW
Orlow
Seth J
SJ
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