Infantile systemic hyalinosis in a black infant.
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.
Sahn
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EE
Department of Dermatology, Medical University of South Carolina, Charleston 29425-2215.
Salinas
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CF
Sens
M A
MA
Key
J
J
Swiger
F K
FK
Holbrook
K A
KA
D003240:Connective Tissue Diseases / Q000235:genetics / Q000473:pathology*; D003286:Contracture / Q000473:pathology; D003967:Diarrhea / Q000473:pathology; D005148:Facial Dermatoses / Q000473:pathology; D005183:Failure to Thrive; D005260:Female; D005885:Gingival Hyperplasia / Q000473:pathology; D006801:Humans; D006818:Hyalin; D007223:Infant; D007592:Joint Diseases / Q000473:pathology; D014103:Torticollis / Q000473:pathology