Skip to main content

Table 1 Patients treated with the S/C ointment in this study

From: Targeting epidermal lipids for treatment of Mendelian disorders of cornification

Patient no.

Type of MeDOC

Mutation analysis (gene, mutation on cDNA and protein level)

Treatment success

Age (years)

   

Origin

   

1

CHILD syndrome

NSDHL: c.613G>A, p.G205S (heterozygous)

Yes

18

   

German

   

2

CHILD syndrome

NSDHL: c.628C>T, p.Q210X (heterozygous)

Yes

38

   

German

   

3

CHILD syndrome

NSDHL: c.262C>T, p.R88X (heterozygous)

Yes

29

   

Egyptian

   

4

X-linked recessive ichthyosis

Deletion of STS (hemizygous)

No

16

   

German

   

5

Autosomal recessive congenital ichthyosis

NIPAL4: c.527C>A; p.A176D (homozygous)

No

13

   

Albanian