Literature DB >> 19126011

Chanarin-Dorfman syndrome with eccrine gland vacuolation: a case report.

Manish Pahwa1, Rakhee Kar, Avninder Singh, Alka Goel, V Ramesh, Rakesh Jain.   

Abstract

Chanarin-Dorfman syndrome is a rare congenital disorder of lipid metabolism characterized by ichthyosis, leukocytic vacuolation (Jordan's anomaly), and variable involvement of the liver and neuromuscular system, with about 40 cases described worldwide to date. We report one more case of this rare syndrome, with certain peculiarities, namely vacuolation in eccrine glands, in a young male adult.

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Year:  2008        PMID: 19126011     DOI: 10.1111/j.1365-4632.2008.03793.x

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN: 0011-9059            Impact factor:   2.736


  1 in total

1.  Chanarin-dorfman syndrome with multi-system involvement in two siblings.

Authors:  Seçil Arslansoyu Çamlar; Pınar Gençpınar; Balahan Makay; Ayşe Yüzbaşıoğlu; Nur Arslan; Serap Emre Dökmeci; Ozden Anal; Galip Köse
Journal:  Turk J Haematol       Date:  2013-03-05       Impact factor: 1.831

  1 in total

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