CHANARIN-DORFMAN SYNDROME

By Gary M. White, MD


The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessive, inherited disorder of lipid metabolism characterized by ichthyosis, lipid vacuoles in leukocytes (Jordan anomaly), and involvement of several internal organs (liver, eyes, ears, skeletal muscle and central nervous system).

Clinical

A congenital ichthyosis is a constant feature. Patients have fine, white scales involving the flexures, scalp and face, producing tautness or ectropion. CDS is one of the potential causes of non-bullous congenital ichthyosiform erythroderma. Alternative presentations rarely occur, including those resembling nonerythrodermic ichthyosis, erythrokeratoderma variabilis and progressive symmetric erythrokeratoderma. Hyperkeratosis of the palms and soles, focal or diffuse alopecia, transverse leukonychia, dystrophic or thickened nails, ungual pitting and onychoschizia are other dermatological manifestations occasionally reported.

Diagnosis

In the proper clinical setting, peripheral blood smear showing lipid vacuoles in granulocytes helps confirm the diagnosis. Liver biopsy may also be done, showing steatosis and large lipid vacuoles in the cytoplasms of hepatocytes.

Treatment

Referral to genetics is appropriate. Unfortunately, there is no effective treatment of CDS. A low fat diet is reported to improve skin and liver findings, although there is no evidence that diet alters the course of the disease. Oral retinoids can improve the skin, but liver disease may limit their use.

References

A 20-year-old woman is referred to dermatology for management of her ichthyosis. Exam shows scaly skin particularly involving her face, arms, and hands. She is also noted to have asymptomatic elevated aminotransferase levels and hepatomegaly. History also includes unilateral congenital cataract and strabismus but her vision is normal. Int J Hepatol. 2011; 2011: 341372

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