Desmosomal disorders

Gene: DSG1

Green List (high evidence)

Congenital erythroderma with palmoplantar keratoderma, hypotrichosis and hyper-immunoglobulin E is characterised by congenital ichthyosiform erythroderma, palmoplantar keratoderma, failure to thrive, multiple allergies, increased serum immunoglobulin E levels, hypotrichosis, recurrent infections and other systemic abnormalities like metabolic wasting, malabsorption, esophagitis, cardiac defects, microcephaly and developmental delay.

Striate palmoplantar keratoderma (SPPK) features linear hyperkeratosis of the volar aspects of the fingers, extending onto the palms, as well as focal plantar keratoderma.

Several reported individuals for both conditions.
- 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.
- Hom c.2601_2602delAG in a boy with severe condition. Parents were carriers and both had mild palmoplantar keratoderma.

- 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*)
- 2 families in this report with 1 individual presenting with skin erosions and scaling homozygous for c.49–1G>A, (authors are calling it SAM syndrome).

Created: 5 Jan 2022, 2:03 a.m. | Last Modified: 5 Jan 2022, 2:03 a.m.

Panel Version: 0.10493

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
• 29315490
• 31192455
• 23974871
• 29229434
• 33666035

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