Hyaline fibromatosis syndrome

Definition:

Hyaline fibromatosis syndrome are autosomal recessive disease. Abnormal accumulation of an unidentified hyaline material in body tissues can lead to joint contractures, osteopenia, thickened skin with hyperpigmentation, gingival hypertrophy, and diarrhea.

References:

[1]. Lisa E Lindvall, et al. Infantile systemic hyalinosis: Case report and review of the literature. J Am Acad Dermatol. 2008 Feb;58(2):303-7. [Content Brief]

[2]. Thrasivoulos G Tzellos, et al. Differential expression of matrix metalloproteinases and proteoglycans in Juvenile Hyaline Fibromatosis. J Dermatol Sci. 2011 Feb;61(2):94-100. [Content Brief]

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