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Infantile systemic hyalinosis in a black infant
E E Sahn1, C F Salinas, M A Sens
1Department of Dermatology, Medical University of South Carolina, Charleston 29425-2215.
Insights
Infantile systemic hyalinosis (ISH) is a rare genetic disorder. This case report details a black infant with ISH, highlighting its presentation and unique features in this demographic.
Area of Science:
- Pediatric Genetics
- Dermatology
- Rare Diseases
Background:
- Infantile systemic hyalinosis (ISH) is a rare, severe genetic disorder characterized by the deposition of hyaline material in various tissues.
- Previous literature has primarily documented ISH in infants of European descent.
Observation:
- A black female infant presented with congenital flexion contractures and progressive symptoms including perioral papules, gingival hyperplasia, torticollis, and sclerodermatous skin.
- Clinical manifestations also included diarrhea, rectal prolapse, and inability to open her mouth.
- Skin biopsy revealed hyaline material in the papillary dermis and a lack of elastic fibers.
Findings:
- The patient exhibited the characteristic clinical, histological, and ultrastructural features of infantile systemic hyalinosis.
- Ultrastructural analysis showed abnormal fibrillogranular material surrounding fibroblasts and blood vessels.
- This case represents a previously undescribed presentation of ISH in a black infant.
Implications:
- This report expands the known phenotypic spectrum of infantile systemic hyalinosis.
- It underscores the importance of considering ISH in infants of diverse ethnic backgrounds presenting with similar complex symptoms.
- Further research into genetic variations and disease mechanisms across different populations is warranted.
Abstract:
A black girl was born with flexion contractures and experienced pain on movement by 1 week of age. She subsequently developed perioral papules, gingival hyperplasia, perianal nodules, torticollis, diarrhea, rectal prolapse, and inability to open her mouth. Her skin became increasingly sclerodermatous, and velvety, hyperpigmented plaques arose over bony prominences. A skin biopsy specimen showed hyaline material in the papillary dermis with lack of elastic fibers. Ultrastructural examination revealed fibrillogranular material around fibroblasts and blood vessels. This child had the clinical, histologic, and ultrastructural features of infantile systemic hyalinosis. This disorder has not been described in a black infant. Previous case reports of infantile systemic hyalinosis are reviewed and unusual features of our case are discussed.