PEDIATRICS Vol. 87 No. 2 February 1991, pp. 228-234
This Article
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrowRequest Permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Glover, M. T.
Right arrow Articles by Atherton, D. J.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Glover, M. T.
Right arrow Articles by Atherton, D. J.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us   Add to Digg   Add to Facebook   Add to Reddit   Add to Technorati   Add to Twitter  
What's this?

Infantile Systemic Hyalinosis: Newly Recognized Disorder of Collagen?

Mary T. Glover MB, MA, MRCP1, Bryan D. Lake BSc, PhD, FRCPath1, and David J. Atherton MB, MA, FRCP1

1 From the Departments of Dermatology and Histopathology, Hospital for Sick Children, Great Ormond Street, London, England

Four infants with stiff skin and painful joint contractures in the first few months of life are described. Other features included small papules, particularly on the face and trunk, perianal nodules, hyperpigmentation over the metacarpophalangeal joints and over the malleoli, gingival hyperplasia, persistent diarrhea, and failure to thrive. Two of these infants died before the age of 18 months. In each case hyaline material was found in the papillary dermis. Ultrastructurally, there was a distinctive fibrillogranular appearance in which a banding pattern could be observed. This material was also found within membrane-bound vacuoles in macrophages and fibroblasts. It had an appearance and localization identical with that of collagen type VI. These features are similar to those reported in juvenile hyaline fibromatosis. It is believed that these infants have a closely related, but nonetheless distinctive, inherited disorder of collagen.

Key Words: hyalinosis • hyaline fibromatosis

Submitted on August 7, 1989
Accepted on January 24, 1990


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Facebook Facebook   Add to Reddit Reddit   Add to Technorati Technorati   Add to Twitter Twitter    What's this?


This article has been cited by other articles:


Home page
 Arch DermatolHome page
T. Liu, T. H. McCalmont, I. J. Frieden, M. L. Williams, M. K. Connolly, and A. E. Gilliam
The Stiff Skin Syndrome: Case Series, Differential Diagnosis of the Stiff Skin Phenotype, and Review of the Literature
Arch Dermatol, October 1, 2008; 144(10): 1351 - 1359.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
J. T.C. Shieh, P. Swidler, J. A. Martignetti, M. C. M. Ramirez, I. Balboni, J. Kaplan, J. Kennedy, O. Abdul-Rahman, G. M. Enns, C. Sandborg, et al.
Systemic Hyalinosis: A Distinctive Early Childhood-Onset Disorder Characterized by Mutations in the Anthrax Toxin Receptor 2 Gene (ANTRX2)
Pediatrics, November 1, 2006; 118(5): e1485 - e1492.
[Abstract] [Full Text] [PDF]

Home page
 Arch. Dis. Child.Home page
F Breier, S Fang-Kircher, K Wolff, and W Jurecka
Juvenile hyaline fibromatosis: impaired collagen metabolism in human skin fibroblasts
Arch. Dis. Child., November 1, 1997; 77(5): 436 - 440.
[Abstract] [Full Text]