Dorfman-chanarin syndromeG60.1

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Chanarin-Dorfman Syndrome; Lipidosis with triglyceride storage disease; Myopathy with neutral fat storage; Neutral Fat Storage Disease; Neutral lipid storage disease; OMIM 604780

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HistoryThis section has been translated automatically.

Dorfman, 1974

DefinitionThis section has been translated automatically.

Rare, congenital, autosomal recessive storage disease, with abnormal storage (lipid droplets) of triglycerides (triacylglycerol) in leukocytes, muscles, liver, fibroblasts, and in keratinocytes and epidermal Langerhans cells. The disease is constantly associated with ichthyosis, which is clinically similar to ichthyosis vulgaris.

Occurrence/EpidemiologyThis section has been translated automatically.

<1:1,000,000; about 60 cases have been published worldwide. Preferably the cases occurred in the Mediterranean region; individual cases originate from India, Saudi Arabia, Japan

EtiopathogenesisThis section has been translated automatically.

Enzyme defect caused by (nonsense, splice, frameshift) mutations of a gene of the esterase lipase thioesterase subfamily (ABHD5 gene) located on chromosome 3p21. This enzyme defect leads to an accumulation of lipids in numerous tissues. Thus, lipid vacuoles can also be detected in skin biopsies, in peripheral blood smears (granuloids and monocytes).

Clinical featuresThis section has been translated automatically.

Congenital fine-lamellar (not bullous) ichthyosis. Some children are born as collodion babies. The changes of the skin are monitor signs of the underlying genetic defect. Early hepatomegaly (70% of patients) with the risk of portal hepatopathy and general developmental disorders of the children is constantly pronounced. In adulthood, cataracts occur (also in childhood in about 40% of patients), inner ear deafness (25%); neurological disorders such as myopathies and ataxias manifest themselves late.

TherapyThis section has been translated automatically.

The ichthyotic changes respond well to retinoids.

LiteratureThis section has been translated automatically.

  1. Dorfman ML et al (1974) Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 110:261-266.
  2. Chanarin I et al (1975) Neutral lipid storage disease: a new disorder of lipid metabolism. Br Med J1:553-555.
  3. Igal RA et al (1997) Neutral lipid storage disease with fatty liver and cholestasis. J Pediatr Gastroenterol Nutr 25:541-54
  4. Ott H et al (2017) The red scaly baby: a pediatric dermatological emergency. Skin resin 68: 795-802
  5. Redaelli C et al (2010) Clinical and genetic characterization of Chanarin-Dorfman syndrome patients: first report of large deletion in the ABDHG genes. Orphanet J Rare Dis 5:33-
  6. Rozenszajn L et al (1996) Jordans' anomaly in white bloodcells. Report of case. Blood 28:258-265.
  7. Takahira Tet al. (1993) Specific myocardial disease caused by multisystemic triglyceride storage in Jordans' anomaly. At Heart J 126:995-997.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer