Juvenile Hyaline Fibromatosis

Yesudian, Patrick; Janaki, V R; Thambiah, A. S.

doi:10.1111/j.1365-4362.1984.tb05703.x

Cited by 13 publications

(13 citation statements)

References 3 publications

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“…Juvenile hyaline fibromatosis and ISH are hereditary disorders believed to be transmitted as autosomal recessive traits, based on multiple reports of affected siblings born to unaffected parents and parental consanguinity (6). The onset of clinical manifestations in JHF usually occurs in children between 3 months and 4 years of age (7,8), while ISH typically presents within the first few weeks or months of life (9). Intrauterine growth retardation and reduced fetal movements have been described for patients with ISH (10).…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

“…These lesions grow slowly, leading to deformities (17). Spontaneous regression is not expected (8). Extensive gingival enlargement is a very common finding in this disease and may cause problems with sucking and chewing in the infant, leading to malnutrition (18,19).…”

Section: Discussionmentioning

confidence: 99%

Exuberant Juvenile Hyaline Fibromatosis in Two Patients

Muniz

Lobo

Machado

et al. 2006

Pediatric Dermatology

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“…Clinically, it is characterized by skin lesions (nodules and/or pearly papules); gingival hyperplasia; joint contracture; abnormal growth of hyalinized fibrous tissues of the head, neck and extremities; and bone lesions [3]. Affected individuals are usually asymptomatic at birth, the onset of clinical signs occurs between 3 months and 4 years of age [4, 5], and these signs increase in severity with age [6, 7]. Most people with JHF survive until the fourth decade of life [8].…”

Section: Introductionmentioning

confidence: 99%

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

et al. 2017

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BackgroundHyaline fibromatosis syndrome (HFS) is a recently introduced alternative term for two disorders that were previously known as juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH). These two variants are secondary to mutations in the anthrax toxin receptor 2 gene (ANTXR2) located on chromosome 4q21. The main clinical features of both entities include papular and/or nodular skin lesions, gingival hyperplasia, joint contractures and osteolytic bone lesions that appear in the first few years of life, and the syndrome typically progresses with the appearance of new lesions.MethodsWe describe five Lebanese patients from one family, aged between 28 and 58 years, and presenting with nodular and papular skin lesions, gingival hyperplasia, joint contractures and bone lesions. Because of the particular clinical features and the absence of a clinical diagnosis, Whole Genome Sequencing (WGS) was carried out on DNA samples from the proband and his parents.ResultsA mutation in ANTXR2 (p. Gly116Val) that yielded a diagnosis of HFS was noted.ConclusionsThe main goal of this paper is to add to the knowledge related to the clinical and radiographic aspects of HFS in adulthood and to show the importance of Next-Generation Sequencing (NGS) techniques in resolving such puzzling cases.

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“…[8] Attempts have been made to differentiate between ISH and JHF. [910] Comparison has been made between our case and the two hyalinosis [Table 1]. …”

Section: Discussionmentioning

confidence: 99%

Infantile systemic hyalinosis: A case report and review of literature

Madke¹,

Kharkar²,

Mahajan³

et al. 2010

Indian Dermatol Online J

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We report a case of infantile systemic hyalinosis in a 3.5-month-old male child born out of consanguineous marriage. He presented with multiple brownish raised lesions over bony prominences. He had also developed difficulty in movement of limbs and as a result developed severe flexion joint contractures. There was history of similar complaints in elder sibling who died at the age of 5 months due to repeated episodes of pneumonia. Skin biopsy from one of the papulonodular lesions showed increased amount of amorphous hyaline matrix, which was Periodic Acid Schiff positive with scattered fibroblasts. Though classical, we report this case for its rarity in western India.

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Juvenile Hyaline Fibromatosis

Cited by 13 publications

References 3 publications

Exuberant Juvenile Hyaline Fibromatosis in Two Patients

Exuberant Juvenile Hyaline Fibromatosis in Two Patients

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome

Infantile systemic hyalinosis: A case report and review of literature

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