Epidermolysis bullosa

Gene: DSG1

Green List (high evidence)

PMID: 29229434
- Patient presented with palmoplantar keratoderma and skin fragility since infancy. Patient lacks allergies or metabolic wasting.
- Hom c.1892-2A>C, cDNA study using patient’s skin sample showed exon skipping resulting in frameshift and premature termination codon. Parents were carriers and not known to be affected.

Created: 10 Dec 2021, 1:14 a.m. | Last Modified: 10 Dec 2021, 1:14 a.m.

Panel Version: 1.1

Publications

• 29229434

Variants in this GENE are reported as part of current diagnostic practice

I don't know

skin blistering and/or fragility reported in 2 probands

PMID: 19558595;
- 40-yr old man presented with painful thickening of the skin on his palms and soles, hyperhidrosis and intermittent associated blistering, since childhood
- heterozygous p.(Arg144*)

PMID: 23974871;
(authors are calling it SAM syndrome)
- 2 families in this report with 1 individual presenting with skin erosions and scaling homozygous for c.49–1G>A
Sources: Literature

Created: 10 Aug 2020, 5:45 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)

Publications

• 19558595
• 23974871