Juvenile Hyaline Fibromatosis

Abstract

Juvenile hyaline fibromatosis (JHF) is a rare, progressive autosomal recessive disease that's characterized by papulonodular skin lesions, soft tissue masses, joint contractures, gingival hypertrophy and osteolytic bone lesions. We present here the case of a 2-yr-old boy with JHF along with a review of the relevant literature. This case demonstrates that JHF should be considered in the differential diagnosis when multiple subcutaneous nodules are observed in the face, head and neck.

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

“…JHF was first described in 1873 as molluscum fibrosum [Lim et al, 2005; Güldner et al, 2009]. In 1973, the current nomenclature (JHF) was proposed [Ribeiro et al, 2009; Park et al, 2010]. To date, only about 70 cases have been reported worldwide [Ribeiro et al, 2009; El‐Maaytah et al, 2010; Park et al, 2010].…”

“…Juvenile hyaline fibromatosis (JHF; OMIM 228600) is a rare, autosomal recessive disorder [Ribeiro et al, 2009; El‐Maaytah et al, 2010] of the connective tissue [Güldner et al, 2009] that is characterized by the abnormal growth of hyalinized fibrous tissue [El‐Maaytah et al, 2010] that determines the appearance of skin lesions (nodules and/or pearly papules) and the involvement of other organs (gingiva, joints, and bones) [Antaya et al, 2007; Dhingra et al, 2008; Park et al, 2010; Slimani et al, 2011]. Infantile systemic hyalinosis (ISH; OMIM 236490) is a similar condition with an earlier age of onset, visceral involvement, and early lethality [Félix et al, 2004; Mendonça et al, 2011].…”

“…Until the molecular mechanism involved in these disorders was identified, several authors argued whether JHF and ISH are separate disorders or part of the same disease [Urbina et al, 2004; Nofal et al, 2009]. Both diagnoses, although rare [Ribeiro et al, 2009; El‐Maaytah et al, 2010], should be considered in children presenting with such clinical manifestations as nodules and/or pearly papules, gingival hyperplasia, and joint contracture [Ribeiro et al, 2009; El‐Maaytah et al, 2010; Park et al, 2010].…”

Juvenile hyaline fibromatosis: report of a rare case at an advanced stage with osteosclerosis and scoliosis

“…Juvenile hyaline fibromatosis (JHF) is an autosomal recessive disease characterized by the presence of multiple tumors, pigmented papules, gingival hypertrophy, flexion contractures of the joints, osteopenia, and stunted growth. Approximately 70 cases of JHF have been reported worldwide, including a few in China . Herein, we describe a rare case of advanced‐stage JHF presenting with large tumors and scoliosis in addition to the usual manifestations.…”

“…Approximately 70 cases of JHF have been reported worldwide, including a few in China. 1 Herein, we describe a rare case of advanced-stage JHF presenting with large tumors and scoliosis in addition to the usual manifestations.…”