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Dorfman-Chanarin syndrome.

Vijay Gandhi1, Puneet Aggarwal, Jyoti Dhawan

  • 1Department of Dermatology and STD, University College of Medical Sciences and Guru Teg Bahadur Hospital, Delhi, India. vj125@rediffmail.com

Indian Journal of Dermatology, Venereology and Leprology
|February 23, 2007
PubMed
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Dorfman-Chanarin syndrome, a rare genetic disorder, presents with congenital lamellar ichthyosis and liver abnormalities. Diagnosis involves identifying lipid vacuoles in granulocytes and skin biopsies, confirming the syndrome.

Area of Science:

  • Dermatology
  • Pediatrics
  • Medical Genetics

Background:

  • Ichthyosis is a group of skin disorders characterized by dry, scaling skin.
  • Congenital ichthyosis presents at birth and can be associated with systemic complications.
  • Dorfman-Chanarin syndrome is a rare autosomal recessive disorder affecting skin and liver function.

Observation:

  • A 4-year-old girl presented with generalized scaling since birth, episodic vomiting, and abdominal distension.
  • Dermatological examination suggested lamellar ichthyosis.
  • Abdominal examination revealed hepatomegaly, fatty liver on ultrasonography, and abnormal liver function tests.

Findings:

  • Peripheral blood smear showed lipid vacuoles in granulocytes, indicative of Jordans' anomaly.

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  • Skin biopsy revealed lipid vacuoles in the basal layer.
  • Liver biopsy demonstrated inflammatory infiltrate, portal tract fibrosis, and severe fatty change in hepatocytes.

    • Implications:

    • This case highlights the importance of considering systemic involvement in congenital ichthyosis.
    • Early diagnosis of Dorfman-Chanarin syndrome is crucial for managing associated liver complications.
    • Further research into the pathogenesis and therapeutic strategies for Dorfman-Chanarin syndrome is warranted.