Systemic hyalinosis or juvenile hyaline fibromatosis

Iwata, Shinjiro; Horiuchi, Ryuya; Maeda, Hidefumi; Ishikawa, Hidekazu

doi:10.1007/bf00569097

Cited by 40 publications

(11 citation statements)

References 14 publications

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“…The frequently observed increase in MPS excretion [14, 19, 22]has been related to abnormalities in the biosynthesis of chondroitinsulphate and hyaluronic acid, which were reported in fibroblasts from a JHF patient [23]. We observed increased excretion of total MPS in patients 1 and 2, but normal sulphate incorporation in fibroblasts of both patients.…”

Section: Discussionsupporting

confidence: 42%

“…This suggests an intracellular block of (aberrant) macromolecule secretion. Very similar aberrations have been described earlier [5, 8, 9], along with dilated cisternae of the rough endoplasmic reticulum and hyperactive Golgi stacks [3, 5, 8, 9, 11, 12, 15, 16, 19, 22]. However, some of these intracellular abnormalities do not seem specific for the hyalinosis syndromes but are also observed in other syndromes characterized by osteolysis [24, 25, 26].…”

Section: Discussionmentioning

confidence: 51%

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Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini¹,

Stojanov

Willemsen³

et al. 1999

Dermatology

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Background: Systemic hyalinoses are genetic generalized fibromatoses characterized by an accumulation of hyalin in the dermis. Two distinctive syndromes are recognized in the literature: infantile systemic hyalinosis (ISH) and juvenile hyaline fibromatosis (JHF). ISH and JHF are sometimes difficult to separate since they show significant overlap. Observations: We report on 3 children from two unrelated families suffering from JHF. The first child is severely handicapped by joint contracture, massive hyperplasia of the gingivae, diffuse skin papules and subcutaneous nodules occupying the scalp, face, perianal area, palms, soles and chest. At the same age, the second child only shows pearly skin papules on the face, groin and perianal area and gingival hyperplasia without joint stiffness or any other subjective complaint. The third patient, a brother of the second child, developed mild skin abnormalities by the end of the first year. The occurrence in siblings and consanguinity in the second family suggests autosomal recessive inheritance. Histological skin examination in the 3 cases showed hyaline deposition in the dermis and abnormal ultrastructure of fibroblasts. Biochemical findings showed mucopolysaccharide abnormalities in both families. Conclusion: Our patients do not only illustrate the different expressions of JHF but also show some overlap with ISH, suggesting a common cause for both disorders. Genetic studies will finally answer this question.

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Section: Discussionsupporting

confidence: 42%

Section: Discussionmentioning

confidence: 51%

Juvenile Hyaline Fibromatosis: Clinical Heterogeneity in Three Patients

Mancini¹,

Stojanov

Willemsen³

et al. 1999

Dermatology

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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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“…Iwata et al [4]noted cultured dermal fibroblasts to enhance chondroitin sulfate production more than hyaluronic acid. The amorphous substance noted in this study was considered to be mainly chondroitin sulfate rather than hyaluronic acid.…”

Section: Discussionmentioning

confidence: 99%

“…Drescher et al [2]in 1967 and Woyke et al [3]introduced the term ‘juvenile hyalin fibromatosis’ (fibromatosis hyalinica multiplex juvenilis). Iwata et al [4]use the designation ‘systemic hyalinosis’. Characteristic clinical features include multiple subcutaneous nodules, with consequent distal joint contracture, radiolucent bone destruction [5]and hypertrophic gingiva with deposits of hyalin ground substance [6].…”

Section: Introductionmentioning

confidence: 99%