Ichthyoses are a heterogeneous group of hereditary disorders characterized clinically by different patterns of skin peeling and hyperkeratosis. Some types are distinguished from others based on heredity data, clinical data, the presence of related findings, as well as histopathological changes. Syndromic forms of the disease would be those that associate extracutaneous manifestations.
The main syndromic entities associated with ichthyosis assessed for the design of this panel are:
- Chondrodysplasia punctata.
- Multiple sulfatase deficiency.
- Gaucher disease.
- Kallmann syndrome.
- Refsum disease.
- Ichthyosis follicularis.
- Keratitis-ichthyosis-deafness (KID) syndrome.
- Chanarin-Dorfman syndrome.
- Sjögren-Larsson syndrome.
- Netherton syndrome.
- CHILD syndrome.
- CHIME syndrome.
- MEDNIK syndrome.
- SAM syndrome.
- Trichothiodystrophy.
- Congenital disorder of glycosylation type Im.
