Caso para diagnóstico

Brandão, Flávia Vieira; Silva, Cláudia Márcia Resende; Guedes, Antônio Carlos Martins

doi:10.1590/s0365-05962009000600017

Cited by 4 publications

(3 citation statements)

References 4 publications

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“…This disorder has a progressive nature, so it requires several surgical interventions and physiotherapy. [1][2][3][4] JHF is a kind of mesenchymal dysplasia that was initially named by Drescher et al and Murray J. as "peculiar cases of molluscum fibrosum". 5 The alternative equivalent words include puretic syndrome, 5 disseminated painful fibromatosis and fibromatosis hyalinica, and multiplex juvenilis.…”

Section: Discussionmentioning

confidence: 99%

“…It has been suggested that JHF is a naturally progressive connective tissue disorder. [1][2][3][4] The first report was made by Murray that called it "peculiar cases of molluscum fibrosum". 5 In a study conducted in 1903, Whitfield and Robinson described that these cases did not belong to neurofibromatosis but should have been placed in a multiple fibromata category.…”

Section: Introductionmentioning

confidence: 99%

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Juvenile Hyaline Fibromatosis Management With a Diode Laser: A Rare Case Report

et al. 2020

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Juvenile hyaline fibromatosis (JHF) is an unknown hereditary disorder with variable penetrance. The characterizations of this disease consist of different signs and symptoms such as multiple tumorous (tumor-like) muco-cutaneous proliferation, gingival hypertrophy, perianal lesions, articular contractures, and osteolytic lesions. A 3-year-old girl with numerous painless nodular masses on her gingival, ear and anal areas is presented in this case report. Based on characteristic histological features, the diagnosis of JHF was made. The patient underwent surgery following general anesthesia and the above areas were surgically operated with appropriate laser parameters, and the patient was able to eat and wash away after a day and was discharged with an antibiotic prescription after one day in the hospital and returned to normal after a week. The recurrence occurred in other areas a year later, especially in the cheek, the ears and the anal area. Therefore, this rare case is presented with recurrence.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Juvenile Hyaline Fibromatosis Management With a Diode Laser: A Rare Case Report

et al. 2020

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“…The authors highlight the importance of early diagnosis, familial genetic counseling and multidisciplinary follow-up. 6 …”

Section: Discussionmentioning

confidence: 99%

Hyaline fibromatosis syndrome: cutaneous manifestations

Marques

Stolf

Polizel

et al. 2016

An. Bras. Dermatol.

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Hyaline fibromatosis syndrome is the current name for clinical manifestations of diseases previously known as “infantile systemic hyalinosis” and “juvenile hyaline fibromatosis”. The authors report representative clinical cases of each one of the above subtypes with emphasis on cutaneous manifestations and difficulties for early diagnosis in this syndrome, essentially of multidisciplinary approach.

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Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

Denadai¹,

Raposo-Amaral

Bertola

et al. 2012

American J of Med Genetics Pt A

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Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are rare, autosomal recessive disorders of the connective tissue caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2) located on chromosome 4q21. Characteristically, these conditions present with overlapping clinical features, such as nodules and/or pearly papules, gingival hyperplasia, flexion contractures of the joints, and osteolytic bone defects. The present report describes a pair of sibs and three other JHF/ISH patients whose diagnoses were based on typical clinical manifestations and confirmed by histopathologic analyses and/or molecular analysis. A comparison of ISH and JHF, additional thoughts about new terminology (hyaline fibromatosis syndrome) and a modified grading system are also included.

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Caso para diagnóstico

Cited by 4 publications

References 4 publications

Juvenile Hyaline Fibromatosis Management With a Diode Laser: A Rare Case Report

Juvenile Hyaline Fibromatosis Management With a Diode Laser: A Rare Case Report

Hyaline fibromatosis syndrome: cutaneous manifestations

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

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