Infantile Systemic Hyalinosis or Juvenile Hyaline Fibromatosis?
: Infantile systemic hyalinosis and juvenile hyaline fibromatosis are presumably autosomal recessive inherited diseases of unknown origin in which accumulation of an amorphous, hyaline material occurs in the skin and other organs. Both disorders may show clinical overlapping, suggesting that they m...
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Published in | Pediatric dermatology Vol. 21; no. 2; pp. 154 - 159 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
Oxford, UK
Blackwell Science Inc
01.03.2004
Blackwell |
Subjects | |
Online Access | Get full text |
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Summary: | : Infantile systemic hyalinosis and juvenile hyaline fibromatosis are presumably autosomal recessive inherited diseases of unknown origin in which accumulation of an amorphous, hyaline material occurs in the skin and other organs. Both disorders may show clinical overlapping, suggesting that they might represent different variants of the same disease spectrum. We describe a 6‐year‐old boy with such overlap. Salient features included papular skin lesions on his face and neck, gingival hyperplasia, perianal nodules, large subcutaneous tumors on the scalp, hyperpigmented plaques over the metacarpophalangeal joints and malleoli, limited joint movement, diffuse osteopenia, short stature, and persistent diarrhea. Histopathologic and ultrastructural studies confirmed the presence of hyalin material in the dermis. The term systemic hyalinosis involves both conditions and should be preferred until a clear distinction can be made between them. |
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Bibliography: | ArticleID:PDE21214 ark:/67375/WNG-FBHFJ1VR-4 istex:D2F97EDE105DC3A70D5D11327E43D2F897BD4ABC ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 0736-8046 1525-1470 |
DOI: | 10.1111/j.0736-8046.2004.21214.x |