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Neutral lipid storage disease with ichthyosis

Disease definition

A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in leukocytes (so-called Jordan's anomaly seen in peripheral blood smears) and a variety of other cell types. The clinical picture consists of congenital ichthyosis of the congenital ichthyosiform erythroderma type together with variable multisystem involvement. Manifestations include hepatosplenomegaly, myopathy, intestinal disease, growth retardation, cataracts, sensorineural hearing loss, and intellectual disability, among others.

ORPHA:98907

Classification level: Disorder
  • Synonym(s):
    • Dorfman-Chanarin disease
    • NLSDI
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.5
  • ICD-11: 5C52.2
  • OMIM: 275630
  • UMLS: C0268238
  • MeSH: C536560
  • GARD: 3979
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

Detailed information

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.