[Netherton syndrome--a rare form of inherited ichtyosis].
Netherton syndrome is a rare skin disease classified into ichtyoses. It has a recessive pattern of inheritance. It is associated with scaly erythrodermia, bamboo hair defect, immunological abnormalities of varying severity, IgE-mediated allergic reactions, infections and defective temperature regulation that often leads to retarded growth and development of a newborn. The phenotype of the disease varies from mild skin symptoms to lethal forms of the disease. We describe two Finnish families, whose children were diagnosed with this disease.
Seinäjoen keskussairaala.
Riitta
R
Marttila
Mirja
M
Tuomiranta
D003937:Diagnosis, Differential; D005260:Female; D005387:Finland; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D056770:Netherton Syndrome / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype