Literature DB >> 23450106

Dorfman-chanarin syndrome: a case report.

Seema T Methre1, Ravibhushan R Godbole, Priyanka S Nayar, Rumma V Manchanda.   

Abstract

An 8-year-old male child, diagnosed case of congenital ichthyosis presented with abdominal distension, hepatomegaly and pancytopenia. His peripheral blood and bone marrow showed clear punched out intracytoplasmic vacuolations in leucocytes (Jordans' anomaly). He had convergent strabismus, ectropion, blepharitis and genu valgum. He was diagnosed as a case of Dorfman-Chanarin syndrome.

Entities:  

Keywords:  Congenital ichthyosis; Dorfman–Chanarin syndrome; Jordans’ anomaly

Year:  2011        PMID: 23450106      PMCID: PMC3311961          DOI: 10.1007/s12288-011-0091-1

Source DB:  PubMed          Journal:  Indian J Hematol Blood Transfus        ISSN: 0971-4502            Impact factor:   0.900


  4 in total

1.  Dorfman-Chanarin syndrome: a case with hyperlipidemia.

Authors:  Oznur Düzovali; Güliz Ikizoğlu; Ali Haydar Turhan; Esat Yilgör
Journal:  Turk J Pediatr       Date:  2006 Jul-Sep       Impact factor: 0.552

2.  Dorfman-Chanarin syndrome: case report with multisystem involvement.

Authors:  Mossaab Hassoun; Zein Zaher El; Peter Noun; Mona Beani; Hassan Fakhoury; Pierre Mouawad; Adlette Inati
Journal:  Pediatr Ann       Date:  2008-05       Impact factor: 1.132

3.  Ichthyosiform dermatosis with systemic lipidosis.

Authors:  M L Dorfman; C Hershko; S Eisenberg; F Sagher
Journal:  Arch Dermatol       Date:  1974-08

4.  Dorfman-Chanarin syndrome.

Authors:  Vijay Gandhi; Puneet Aggarwal; Jyoti Dhawan; Usha Rani Singh; S N Bhattacharya
Journal:  Indian J Dermatol Venereol Leprol       Date:  2007 Jan-Feb       Impact factor: 2.545

  4 in total
  1 in total

1.  A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.

Authors:  Ali Haydar Eskiocak; Sara Missaglia; Laura Moro; Murat Durdu; Daniela Tavian
Journal:  Lipids Health Dis       Date:  2019-12-28       Impact factor: 3.876

  1 in total

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