Literature DB >> 24701518

Juvenile Hyaline Fibromatosis (JHF): A Rare Case with Recurrence.

Rashmi M V1, Geetha J P1, Srinivas Arava2, Niranjana Murthy B3, Kodandaswamy C R3.   

Abstract

Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disease. Less than 70 cases of JHF have been reported worldwide and extremely few from India. We present a case of 4-year-old girl who presented with multiple painless nodular masses on the scalp. On fine needle aspiration cytology, a diagnosis of benign spindle cell lesion was provided, the scalp lesions were excised and on histopathology the diagnosis of JHF was made. Retrospectively, the cytology slides were reviewed and the features were consistent with the diagnosis. A diagnosis of JHF was made based on the classical clinical features, Fine Needle Aspiration Cytology (FNAC) findings and the characteristic histopathological features along with a supportive evidence based on special stains. However, the patient had a recurrence within two years. Hence, we present this rare case with recurrence.

Entities:  

Keywords:  CMG2 protein; Chromosome 4q21 mutation; Juvenile hyaline fibromatosis; Recurrence

Year:  2014        PMID: 24701518      PMCID: PMC3972545          DOI: 10.7860/JCDR/2014/7637.4043

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  8 in total

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Journal:  J Postgrad Med       Date:  2004 Apr-Jun       Impact factor: 1.476

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Authors:  Flávia Vieira Brandão; Cláudia Márcia Resende Silva; Bernardo Gontijo; Antônio Carlos Martins Guedes
Journal:  An Bras Dermatol       Date:  2009 Nov-Dec       Impact factor: 1.896

5.  Fine needle aspiration cytology of juvenile hyaline fibromatosis: a case report.

Authors:  V Geethamani; Savithri Ravindra; Varun V Reddy
Journal:  Acta Cytol       Date:  2007 Jul-Aug       Impact factor: 2.319

6.  Juvenile hyaline fibromatosis and infantile systemic hyalinosis: divergent expressions of the same genetic defect?

Authors:  Mandeep Dhingra; Sangeeta Amladi; Shankar Savant; Chitra Nayak
Journal:  Indian J Dermatol Venereol Leprol       Date:  2008 Jul-Aug       Impact factor: 2.545

7.  Three years old child with juvenile hyaline fibromatosis presenting with rectal bleeding.

Authors:  Kapeel Raja; Mohammad Arsalan Khan; Mohammad Mubarak; Zaigham Abbas; Nasir Hassan Luck; Syed Mujahid Hassan
Journal:  J Pak Med Assoc       Date:  2013-03       Impact factor: 0.781

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Authors:  Jayashree Krishnamurthy; Bibhas Saha Dalal; Manjunath V Gubanna
Journal:  Indian J Dermatol       Date:  2011-11       Impact factor: 1.494

  8 in total
  2 in total

1.  Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease.

Authors:  Prarthana Sameer Kalgaonkar; Minal Wade; Charusheela Warke; Meena Makhecha; Manisha Khare
Journal:  J Clin Diagn Res       Date:  2017-07-01

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

Authors:  Zahraa Haidar; Ramzi Temanni; Eliane Chouery; Puthen Jithesh; Wei Liu; Rashid Al-Ali; Ena Wang; Francesco M Marincola; Nadine Jalkh; Soha Haddad; Wassim Haidar; Lotfi Chouchane; André Mégarbané
Journal:  BMC Genet       Date:  2017-01-19       Impact factor: 2.797

  2 in total

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