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Infantile systemic hyalinosis: newly recognized disorder of collagen?
M T Glover1, B D Lake, D J Atherton
1Department of Dermatology, Hospital for Sick Children, London, England.
Insights
This study describes a rare inherited disorder in infants characterized by stiff skin and joint contractures. The condition involves abnormal collagen type VI deposition, leading to severe health issues and early mortality.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Describes a rare inherited disorder affecting infants.
- Characterized by stiff skin and painful joint contractures within the first few months of life.
Observation:
- Infants presented with papules, perianal nodules, hyperpigmentation, gingival hyperplasia, diarrhea, and failure to thrive.
- Two infants died before 18 months of age.
Findings:
- Hyaline material, identified as abnormal collagen type VI, was found in the papillary dermis.
- Ultrastructural analysis revealed a distinctive fibrillogranular appearance with a banding pattern.
- This material was observed within macrophages and fibroblasts.
Implications:
- Suggests a distinct inherited disorder of collagen, closely related to juvenile hyaline fibromatosis.
- Highlights the importance of collagen VI in skin and connective tissue development.
- Underscores the severe, often fatal, consequences of this genetic condition in infancy.
Abstract:
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.