Chanarin-Dorfman Syndrome

Abstracts

Chanarin-Dorfman syndrome is a rare autosomal recessive disease that may be associated with ichthyosis and is characterized by the presence of intracellular lipid droplets in the cells of many different tissues, in particular in keratinocytes and granulocytes. Mutations in the gene that encodes the ABHD5 protein of the esterase/lipase/thioesterase subfamily have been identified as the main cause of the disorder. The extracutaneous manifestations are heterogeneous, both in intensity and characteristics. Systemic involvement may include hepatosplenomegaly, double-sided cataracts, growth retardation, myopathy, ataxia and bilateral sensorineural hearing loss.(1) Since the first reports of the syndrome (1) only 30 patients have been described in the literature, mostly from Middle Eastern countries.(2) The diagnosis is confirmed by the presence of lipid droplets in granulocytes of peripheral blood.(3)

Ichthyosis; Lipid metabolism, inborn errors; Syndrome; Granulocytes

A síndrome de Chanarin-Dorfman é uma doença rara autossômica recessiva, que pode estar associada à ictiose, caracteriza-se pela presença de gotículas lipídicas intracelulares em células dos mais variados tecidos, especialmente nos queratinócitos e granulócitos. Mutações no gene ABHD5, que codifica uma proteína da esterase/lipase/subfamília tioesterase, têm sido identificadas como o principal motivo da desordem. As manifestações extracutâneas são heterogêneas, tanto em intensidade quanto em características. O envolvimento sistêmico pode incluir hepatoesplenomegalia, cataratas de dupla face, retardo de crescimento, miopatia, ataxia e perda auditiva neurossensorial bilateral.(1) Desde os primeiros relatos da síndrome,(1) apenas 30 pacientes foram descritos na literatura, a maioria proveniente de países do Oriente Médio.(2) O diagnóstico é confirmado pela presença de gotículas lipídicas em granulócitos de sangue periférico.(3)

Ictiose; Erros inatos do metabolismo lipídico; Síndrome; Granulócitos

IMAGES IN CLINICAL HEMATOLOGY

^IFaculdade de Medicina da Universidade de São Paulo - USP, São Paulo (SP), Brazil

^IIHematology Service, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo - USP, São Paulo (SP), Brazil

Correspondence

ABSTRACT

Chanarin-Dorfman syndrome is a rare autosomal recessive disease characterized by the presence of intracellular lipid droplets in the cells of many different tissues, in particular in keratinocytes and granulocytes that may be associated with ichthyosis. Mutations in the gene that encodes the ABHD5 protein of the esterase/lipase/thioesterase subfamily have been identified as the main cause of the disorder. Extracutaneous manifestations are heterogeneous both in intensity and characteristics. Systemic involvement may include hepatosplenomegaly, double-sided cataracts, growth retardation, myopathy, ataxia and bilateral sensorineural hearing loss.⁽¹⁾ Since the first reports of the syndrome⁽¹⁾ only 30 patients have been described in the literature, mostly from Middle Eastern countries.⁽²⁾ The diagnosis is confirmed by the presence of lipid droplets in granulocytes of peripheral blood.⁽³⁾

Keywords: Ichthyosis; Lipid metabolism, inborn errors; Syndrome; Granulocytes

References

• 1. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol. 1974;110(2): 261-4.
• 2. Peña-Penabad C, Almagro M, Martínez W, García-Silva J, Del Pozo J, Yebra MT, et al. Dorfman-Chanarin syndrome (neutral lipid storage disease): new clinical features. Br J Dermatol. 2001; 144(2):430-2. Review.
• 3. Lefèvre C, Jobard F, Caux F, Bouadjar B, Karaduman A, Heilig R, et al. Mutations in CGI-58, the gene encoding a new protein of esterase /lipase / thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet. 2001;69(5):1002-12.

Chanarin-Dorfman syndrome

Sheila de Oliveira Garcia^I; Aline de Lima Deolindo^I; Juliana Pereira^II

Publication Dates

• Publication in this collection
  01 Feb 2012
• Date of issue
  2010