Juvenile hyaline fibromatosis in siblings

Gupta, Lalit; Singhi, M. K.; Bansal, Mohit; Khullar, R; Jain, V. K.; Kachhawa, Dilip

doi:10.4103/0378-6323.13998

Cited by 12 publications

(11 citation statements)

References 3 publications

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“…Mutations in the capillary morphogenesis factor -2 gene have also been described. [2] It has been hypothesized that JHF is a connective tissue disorder characterized by aberrant synthesis of glycosaminoglycans by fibroblasts. [4] Glycosaminoglycans in the tumor tissue comprised dermatan sulfate, chondroitin sulfate and hyaluronan, with the dermatan sulfate predominating.…”

Section: Discussionmentioning

confidence: 99%

“…[5] It usually affects one or more siblings and, as in the present case, it initially presents in children between 2 and 5 years of age. [2] The condition is characterized by multiple cutaneous papules, nodules or tumor masses, gingival hypertrophy, joint contractures and osteolytic defects. [4] Skin lesions may be the most outstanding symptoms of JHF, but joint contracture and gingival hypertrophy precede the skin manifestation.…”

Section: Discussionmentioning

confidence: 99%

“…[6] Joint contractures cripple the patients and retard normal motor development if it occurs in infancy. [2] Severe gingival hyperplasia can interfere with eating and delay dentition too. [1] The present case has only cutaneous lesions, but there is no gingival hypertrophy, joint or bone involvement till date.…”

Section: Discussionmentioning

confidence: 99%

“…[8] The diagnosis is confirmed by histology. [2] The tumors are poorly circumscribed and consist of cords of spindle-shaped cells embedded in a homogeneous eosinophilic matrix. They are often found in the dermis, subcutis and gingiva, although the bone and joints may also be involved.…”

Section: Discussionmentioning

confidence: 99%

“…[4] It is characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. [2]…”

Section: Introductionmentioning

confidence: 99%

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Juvenile hyaline fibromatosis

Krishnamurthy¹,

Dalal²,

Sunila³

et al. 2011

Indian J Dermatol

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Juvenile hyaline fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts. We report a 5-year-old female born of first-degree consanguineous marriage who presented with multiple, recurrent, painless, variable-sized nodules. Fine needle aspiration cytology smears and the subsequent histopathological examination from the nodules showed benign spindle cells in a Periodic acid Schiff-positive myxoid background. The disease has a relentlessly progressive course, with most patients surviving only up to the 4th decade. As of now, there is no specific treatment for this disorder. Genetic counseling is essential to explain to parents about a 25% chance of having a diseased baby in any pregnancy. With the gene being mapped recently, techniques for antenatal diagnosis are likely to be established.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…[4] It is characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. [2]…”

Section: Introductionmentioning

confidence: 99%

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Juvenile hyaline fibromatosis

Krishnamurthy¹,

Dalal²,

Sunila³

et al. 2011

Indian J Dermatol

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Acquired Disorders of Dermal Connective Tissue

Lovell

2016

Rook's Textbook of Dermatology, Ninth Edition

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The subject matter of this chapter comprises the major acquired disorders that affect mainly collagen and elastic tissue. The connective tissue of normal skin is discussed elsewhere. Heritable disorders of connective tissue, such as Ehlers–Danlos syndrome, are covered in another chapter, as are disorders of ground substance, such as the mucinoses and mucopolysaccharidoses. In addition, many disorders, including developmental defects, neoplasms and other reactive or scarring conditions, may involve the connective tissues. Although it can be convenient to separate conditions into disorders affecting collagen or elastic tissue, the distinction is somewhat artificial, as changes in these proteins are generally preceded by abnormal metabolism of other matrix components, such as fibronectin or periostin.

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Acquired Disorders of Dermal Connective Tissue

Fahy,

Lovell

2024

Rook's Textbook of Dermatology

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This chapter reviews acquired changes in dermal connective tissue during normal ageing and in disease processes, including photodamage. Corticosteroids are a potent cause of dermal atrophy, which may also be congenital or induced by inflammatory disorders related to morphoea. Enzymatic degradation of elastic tissue results in localised or generalised skin laxity, which resembles genetic disorders such as pseudoxanthoma elasticum and cutis laxa. In contrast, some disorders are characterised by excessive deposition of collagen or elastic tissue. Fibrosis is associated with contracture, which causes deformity and restricted movement as in palmoplantar fibromatosis. Several chemical environmental triggers induce diffuse fibrosis resembling systemic sclerosis. Keloids represent an abnormal scarring response to trauma. Finally, dermal connective tissue components may be extruded via the epidermis in perforating disorders such as elastosis perforans serpiginosa.

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Juvenile hyaline fibromatosis in siblings

Cited by 12 publications

References 3 publications

Juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis

Acquired Disorders of Dermal Connective Tissue

Acquired Disorders of Dermal Connective Tissue

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