Juvenile Hyaline Fibromatosis; Case Report with Five Yearsʼ Follow-up

Miyake, Iyoko; Tokumaru, Hizuru; Sugino, Hiroko; Tanno, Masataka; Yamamoto, Tetsurou

doi:10.1097/00000372-199512000-00010

Cited by 25 publications

(13 citation statements)

References 1 publication

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“…For our patient, the diagnosis of JHF was based on the presence of typical tumoral skin lesions, gingival hyperplasia, osteolytic bone lesions, joint contracture, muscle weakness and the characteristic histopathological findings. The presence of amorphous hyaline material in the dermis supported our diagnosis of JHF (13-15). …”

Section: Discussionsupporting

confidence: 80%

Juvenile Hyaline Fibromatosis

Park

Chang

Sung

2010

Clin Exp Otorhinolaryngol

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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.

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Section: Discussionsupporting

confidence: 80%

Juvenile Hyaline Fibromatosis

Park

Chang

Sung

2010

Clin Exp Otorhinolaryngol

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“…Juvenile hyaline fibromatosis is a rare disorder first described in 1873 by Murray as ‘‘molluscum fibrosum’’ (4). Since then approximately 60 patients have been reported in the English language literature.…”

Section: Discussionmentioning

confidence: 99%

“…JHF tumors are characterized by dermal deposition of an amorphous hyaline, eosinophilic substance, in which spindle‐shaped cells are embedded. Extracellular matrix is more abundant in older lesions, whereas recent lesions tend to be more cellular (4,25,26). This feature can be observed in the histologic findings of patients 1 and 2 respectively.…”

Section: Discussionmentioning

confidence: 99%

Exuberant Juvenile Hyaline Fibromatosis in Two Patients

Muniz

Lobo

Machado

et al. 2006

Pediatric Dermatology

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Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autosomal recessive disorders of infancy and early childhood that are histologically characterized by deposition of hyaline material. The main clinical features are papulo-nodular skin lesions, gingival hypertrophy, joint contractures, and bone abnormalities. However, infantile systemic hyalinosis has a more severe clinical presentation, including visceral involvement and premature death. Very recently, genetic studies identified mutations in the same gene in patients with both conditions, strongly suggesting that they belong to the same disease spectrum. We report two new nonrelated patients who met the criteria for the diagnosis of juvenile hyaline fibromatosis/infantile systemic hyalinosis. Clinical, histopathologic, immunohistochemical, and ultrastructural findings are presented, as well as an extensive review of the literature. Recent information regarding pathogenesis and treatment is discussed.

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“…The juvenile form presents during infancy and early childhood with nodular and papular cutaneous lesions on the hand, scalp, ears, and nose [269][270][271][272][273]. Gingival hypertrophy, progressive joint contractures, large subcutaneous masses, and osteopenia develop in most patients [274][275][276][277], although they live into adulthood [278][279][280][281]. Infantile systemic hyalinosis is the most severe form, and visceral involvement leads to death in early childhood, mainly due to protein-losing enteropathy, recurrent infections, and failure to thrive [282][283][284][285][286][287][288].…”

Section: Lipofibromatosismentioning

confidence: 99%

Fibroblastic and Myofibroblastic Tumors in Children and Adolescents

2012

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Fibroblastic and myofibroblastic tumors in children and adolescents are a relatively common group of soft tissue proliferations that range from reactive to hamartomatous to neoplastic, with a full spectrum of benign, intermediate, and malignant neoplasms. These lesions are diagnostically challenging because of morphologic and immunohistochemical overlap, despite significant clinical, genetic, and prognostic differences. The fibromatoses are a major subgroup, and all types of fibromatoses can occur in the 1st 2 decades of life. Intermediate and malignant fibroblastic-myofibroblastic tumors are an important group that includes variants of fibrosarcoma and other tumors with recurrent cytogenetic or molecular genetic abnormalities and low metastatic potential. Pathologic examination is enhanced by adjunct techniques, such as immunohistochemistry, cytogenetics, and molecular genetics, although morphology provides the ultimate criteria for a specific diagnosis. This article reviews the clinicopathologic features of fibroblastic and myofibroblastic tumors with an emphasis on the unique aspects of these neoplasms in children and adolescents, the use of diagnostic adjuncts, and differential diagnoses.

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Juvenile Hyaline Fibromatosis; Case Report with Five Yearsʼ Follow-up

Cited by 25 publications

References 1 publication

Juvenile Hyaline Fibromatosis

Juvenile Hyaline Fibromatosis

Exuberant Juvenile Hyaline Fibromatosis in Two Patients

Fibroblastic and Myofibroblastic Tumors in Children and Adolescents

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