Literature DB >> 8358106

Juvenile hyaline fibromatosis with skull-encephalic anomalies: a case report and review of the literature.

Y Gilaberte1, I González-Mediero, V López Barrantes, A Zambrano.   

Abstract

We report a case of juvenile hyaline fibromatosis. Besides the typical features of this syndrome, skull and encephalic abnormalities, not previously mentioned, are described. Clinical and microscopic characteristics, therapeutic possibilities and different theories concerning histopathogenesis are discussed.

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Year:  1993        PMID： 8358106     DOI： 10.1159/000247227

Source DB:  PubMed          Journal:  Dermatology        ISSN： 1018-8665            Impact factor:   5.366


  3 in total

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

Authors:  Rafael Denadai; Cassio E Raposo-Amaral; Débora Bertola; Chong Kim; Nivaldo Alonso; Thomas Hart; Sangwoo Han; Rafael F Stelini; Celso L Buzzo; Cesar A Raposo-Amaral; P Suzanne Hart
Journal:  Am J Med Genet A       Date:  2012-03-01       Impact factor: 2.802

2.  Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature.

Authors:  Sahar Ahmed Fathi Hammoudah; Lama Mohammed El-Attar
Journal:  Intractable Rare Dis Res       Date:  2016-05

3.  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
  3 in total

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