Search for a rare disease
Other search option(s)
Neutral lipid storage disease with ichthyosis
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:98907Classification level: Disorder
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
- Emergency guidelines
- Français (2018, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Français (2021) - PNDS
: produced/endorsed by FSMR(s)
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.