Abstract:
:Juvenile hyaline fibromatosis (JHF) is a rare disease with autosomal recessive inheritance that occurs mainly in childhood and is characterized by the deposition of amorphous hyaline material in the skin and other organs. There are approximately 70 cases reported in the literature. Herein we describe the case of a 14-month-old boy with multiple cutaneous nodules around small and large joints, papulous skin lesions, hyperpigmented plaques and nodules in the perianal region, flexion contractures and stiffness of joints and diffuse osteoporosis. Symptoms were present since the second month of life. Histopathologic studies of joint nodulations demonstrated the presence of hyaline material, confirming the diagnosis of juvenile hyaline fibromatosis.
journal_name
Acta Reumatol Portjournal_title
Acta reumatologica portuguesaauthors
Ribeiro SL,Guedes EL,Botan V,Barbosa A,Freitas EJsubject
Has Abstractpub_date
2009-01-01 00:00:00pages
128-33issue
1eissn
0303-464Xjournal_volume
34pub_type
杂志文章,评审