Disease name

반성 어린선
 X-linked ichthyosis

Marker gene

Gene symbol Chromosome location Protein name
STS Xp22.31 Steryl-sulfatase

Prevalence

1-5 / 10 000

Inheritance

X 연관 열성

Age of onset

신생아기, 영아기

ICD 10 code

Q80.1

MIM number

300001
308100

Synonym

Steroid sulfatase deficiency

Summary

X-linked ichtyosis is a rare form of recessive ichtyosis that affects only males, while females are carriers. Onset occurs within the first few days of life with prolonged exfoliation of the newborn. Scales are often grayish or blackish. Skin`s folds, palms and soles are spared, as opposed to the sides of the face. Metabolic lipidic disorders and late puberty are frequent findings. Levels of oestriol remain low during pregnancy, despite DHA sulfate therapy. Cancer of the testes may be as much as 10 times more frequent in these patients than among the overall population.