Abnormal collagen deposition in fibromas from patient with juvenile hyaline fibromatosis

Tanaka, Keisuke; Ebihara, Tetsuya; Kusubata, Masashi; Adachi, Eijiro; Arai, Masami; Kawaguchi, Noriyoshi; Utsunomiya, Joji; Miki, Yoshio; Hiramoto, Michiaki; Hattori, Shunji

doi:10.1016/j.jdermsci.2009.06.005

Cited by 29 publications

(22 citation statements)

References 9 publications

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“…To our knowledge, only ten cases of JHF have been reported in adults in English literature [2,[7][8][9][10][11][12][13][14], among which 4 reports described X-ray aspects [2,[8][9][10], always abnormal, in contrast to children in whom normal aspect on X-ray studies is not infrequently observed [13,16,17]. Keser et al [8] were the Wrst to report musculoskeletal abnormalities in adulthood, in two severely aVected siblings with extensive destruction of the hips, the shoulder and distal joints.…”

Section: Discussionmentioning

confidence: 99%

Juvenile hyaline fibromatosis: focus on radiographic features in adulthood

Slimani¹,

Haddouche²,

Haid³

et al. 2010

Rheumatol Int

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Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive hereditary disorder (less than 80 cases reported), characterized by multiple nodular lesions on the skin and musculoskeletal involvement, very debilitating because most adolescents and adults become bedridden. Only 10 cases have been reported on JHF in adulthood. We report the case of a 34-year-old male patient in whom clinical and histological findings were consistent with a mild JHF and focus on the radiographic features. The main purpose of this report is to increase the information available related to the radiographic manifestations and prognosis of JHF.

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Section: Discussionmentioning

confidence: 99%

Juvenile hyaline fibromatosis: focus on radiographic features in adulthood

Slimani¹,

Haddouche²,

Haid³

et al. 2010

Rheumatol Int

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“…Mutations in CMG2 cause hyaline fibromatosis syndrome (HFS), [32][33][34] an autosomal recessive disorder characterized by the presence of non-cancerous tissue proliferations and nodules that contain an excess of amorphous ECM, including glycosaminoglycans and collagens type I and VI. [35][36][37][38][39][40] Although the stimulus for lesion formation is unclear, their prevalence over points of mechanical stress or pressure suggests that their pathogenesis may involve disregulation of repair mechanisms after microtrauma. 41 The common buildup of off-target or on-target activity of the antiangiogenic agent employed.…”

Section: Elucidating the Function Of Tem8mentioning

confidence: 99%

Selective blockade of tumor angiogenesis

Chaudhary

Croix

2012

Cell Cycle

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Blocking tumor angiogenesis is an important goal of cancer therapy, but clinically approved anti-angiogenic agents suffer from limited efficacy and adverse side effects, fueling the need to identify alternative angiogenesis regulators. Tumor endothelial marker 8 (TEM8) is a highly conserved cell surface receptor overexpressed on human tumor vasculature. Genetic disruption of Tem8 in mice revealed that TEM8 is important for promoting tumor angiogenesis and tumor growth but dispensable for normal development and wound healing. The induction of TEM8 in cultured endothelial cells by nutrient or growth factor deprivation suggests that TEM8 may be part of a survival response pathway that is activated by tumor microenvironmental stress. In preclinical studies, antibodies targeted against the extracellular domain of TEM8 inhibited tumor angiogenesis and blocked the growth of multiple human tumor xenografts. Anti-TEM8 antibodies augmented the activity of other anti-angiogenic agents, vascular targeting agents and conventional chemotherapeutic agents and displayed no detectable toxicity. Thus, anti-TEM8 antibodies provide a promising new tool for selective blockade of neovascularization associated with cancer and possibly other angiogenesis-dependent diseases.

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“…Additional findings include osteopenia and osteoporosis, and the affected children are susceptible to infections and protein losing enteropathy (1). Histopathology of skin lesions shows proliferation of spindle-shaped cells, embedded in a homogeneous hyaline-like material, and biochemical alterations in type I and VI collagens as well as in glycosaminoglycans have been reported (2,3).…”

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confidence: 99%