Juvenile Hyaline Fibromatosis

Juvenile hyaline fibromatosis.

Juvenile byaline fibromatosis is a rare connective tissue disorder, characterized by skin tumours, gingival hypertrophy and flexion contractures of the acral joints. Other associations include stunted growth, osteolytic changes and muscle weakness. The mental development is normal. Juvenile hyaline fibromatosis probably has an autosomal recessive inheritance, characterized by increased synthesi...

Juvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect?

We describe here a three year-old girl with classic clinical and histological features of juvenile hyaline fibromatosis. We found a history of similar skin findings in her eldest sister, in whom the disorder took a rapidly progressive and fatal course in the second year of life, suggesting either a very severe form of juvenile hyaline fibromatosis, or the possibility of infantile systemic hyali...

Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report

INTRODUCTION Juvenile hyaline fibromatosis and infantile systemic hyalinosis are variants of the same autosomal recessive syndrome; hyaline fibromatosis syndrome, characterized by papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth. Infantile systemic hyalinosis is distinguished from juvenile hyaline fibromatosis by its mo...

Juvenile Hyaline Fibromatosis: A Rare Case with Recurrence

Hyaline fibromatosis syndrome: cutaneous manifestations.

Hyaline fibromatosis syndrome is the current name for clinical manifestations of diseases previously known as "infantile systemic hyalinosis" and "juvenile hyaline fibromatosis". The authors report representative clinical cases of each one of the above subtypes with emphasis on cutaneous manifestations and difficulties for early diagnosis in this syndrome, essentially of multidisciplinary appro...