Infantile systemic hyalinosis

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 dev...

Full description

Saved in:
Bibliographic Details
Published in:Journal of the American Academy of Dermatology Vol. 50; no. 2; pp. 61 - 64
Main Authors: Shin, Helen T, Paller, Amy, Hoganson, George, Willner, Judith P, Chang, Mary Wu, Orlow, Seth J
Format: Journal Article
Language:English
Published: New York, NY Mosby, Inc 01-02-2004
Elsevier
Subjects:
Biological and medical sciences
Buttocks
Collagen Diseases - diagnosis
Collagen Diseases - genetics
Collagen Diseases - pathology
Contracture - diagnosis
Contracture - genetics
Contracture - pathology
Dermatology
Diagnosis, Differential
Failure to Thrive
Female
Hand
Humans
Hyalin - metabolism
Infant
Infant, Newborn
Lower Extremity
Male
Medical sciences
Pigmentation Disorders - diagnosis
Pigmentation Disorders - genetics
Pigmentation Disorders - pathology
Human
Case study
Skin disease
Dermatology
Infant
Systemic
Child
Hyalinosis
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0190-9622
1097-6787
DOI:10.1016/S0190-9622(03)02798-1