Dorfman-chanarin syndrome: a case report.
Seema T Methre1, Ravibhushan R Godbole, Priyanka S Nayar
1Department of Pathology, K.E.M. Hospital, Sardar Moodliar Road, Rasta Peth, Pune, Maharashtra 411011 India.
Summary
Dorfman-Chanarin syndrome, a rare genetic disorder, was diagnosed in an 8-year-old boy with congenital ichthyosis. The patient exhibited characteristic Jordan
Area of Science:
- Medical Genetics
- Dermatology
- Hematology
Background:
- Congenital ichthyosis is a group of rare genetic skin disorders characterized by dry, thickened, and scaly skin.
- Dorfman-Chanarin syndrome (DCS) is an autosomal recessive ichthyosis variant characterized by ichthyosis, alopecia, keratoderma, and sometimes neurological and hepatic abnormalities.
Observation:
- An 8-year-old male with congenital ichthyosis presented with abdominal distension, hepatomegaly, and pancytopenia.
- Peripheral blood and bone marrow examination revealed distinctive "punched out" intracytoplasmic vacuoles in leukocytes, known as Jordan's anomaly.
- Additional clinical features included convergent strabismus, ectropion, blepharitis, and genu valgum.
Findings:
- The combination of congenital ichthyosis, Jordan's anomaly in leukocytes, and the observed physical and hematological abnormalities led to the diagnosis of Dorfman-Chanarin syndrome.
- Jordan's anomaly, characterized by intracytoplasmic vacuoles in white blood cells, is a key diagnostic marker for DCS.
- The case highlights the multisystemic nature of DCS, affecting skin, eyes, bones, and blood.
Implications:
- This case underscores the importance of recognizing Jordan's anomaly in the context of congenital ichthyosis for timely diagnosis of Dorfman-Chanarin syndrome.
- Early diagnosis of DCS allows for appropriate management of associated complications, potentially improving patient outcomes.
- Further research into the genetic and molecular mechanisms of DCS can lead to targeted therapies and better understanding of lipid metabolism disorders.
